Deci, Cine este Iosefina Speers?
„ Mă numesc Iosefina Speers si am început sa scriu despre asumarea responsabilității pentru sănătatea personala din 1 iunie 2012 pe pagina de facebook “Tu esti doctorul tau”, iar din 22 noiembrie 2013 am lansat si blogul cu același nume, tuestidoctorultau.ro. Cred ca cele mai importante lucruri de care e nevoie pentru a avea sănătate fizica, dar si sufleteasca, sunt atitudinea si responsabilitatea personala pentru menținerea si îmbunătățirea ei. Sănătatea începe de la a preveni starea de boala, continua cu a o menține si a o îmbunătăți la un nivel optim personal, prin nutriție echilibrata, aport de vitamine si suplimente pentru un status nutritional optim, evitare substanțe toxice, sport si exercițiu fizic, dezvoltare personala si profesionala continua, suport spiritual, relațional si social etc. Nu exista sănătate (pe termen lung), atâta timp cat mentalitatea cu privire la aceasta este greșită. O persoana care își va neglija sănătatea in mod permanent, printr-un stil de viata nesănătos, va începe sa aibă diverse probleme de sănătate.
Ca profil profesional, am terminat studiile de baza medicale la Universitatea de Medicina si Farmacie Carol Davila, Bucuresti:
• Master in Sănătate publica si managementul serviciilor de sănătate
• Rezidențiat in Medicina de Laborator cu admitere prin concurs
• Facultatea de Medicina Generala. Genetica, trombofiliile, mutațiile genei MTHFR si apoi nutrigenomica sunt domeniile in care m-am specializat:
• in cursul facultății de Medicina generala am învățat noțiunile de baza de biochimie medicala, nutriție, genetica medicala si biologie celulara
• in rezidențiatul pe Medicina de laborator, am ales ca stagiul opțional sa il desfășor in laboratorul de hemostaza din Clinica de Hematologie a Spitalului Clinic Coltea, unde am început sa aprofundez noțiunile de hemostaza, precum si patologiile asociate cu coagularea excesiva de tip trombofilii, inclusiv trombofiliile ereditare de tip mutatii gena factorului V de coagulare (Leiden), mutatii gena factorului II protrombina (G20210A), mutatii gena MTHFR (2006)
• lucrarea de dizertatie pentru masterul in Sănătate publica si management medical am realizat-o sub indrumarea d-nei Dr. Simona Avram cu tema “Evaluare economica in screening-ul pentru trombofilia ereditara la gravidele cu risc”, in care am evaluat trombofiliile ereditare de tip Factor V Leiden (homo/heterozigota), Factor II G20210A (homo/heterozigota), MTHFR C677T(homozigota), antitrombina III, proteina C, proteina S (februarie 2006)
• in cursul perioadei de asistent de cercetare in coagulare in acelasi laborator de hemostaza din cadrul Spitalului Clinic Coltea am continuat diagnosticul pentru trombofilii, in special la gravidele cu sarcini cu risc (2007)
• din 2007 lucrez ca product manager in biologie moleculara, la o companie medicala privata
• in calitate de membru fondator din 2007 la Societatea Romana de Hemostaza si Tromboza, particip la congresele bianuale ale societatii unde am ocazia sa primesc informații updatate in domeniul trombofiliilor & trombozelor etc.
• la cursul de Epigenetics & Nutrigenomics, oferit de Australian College of Nutritional and Environmental Medicine, am descoperit prima data conceptele de nutrigenomica, sau cum poti sa modifici expresia genelor prin influenta nutrientilor, si pe cel de epigenetica, in care exprimarea informatiei genetice din codul ADN este sub influenta factorilor externi (factori de mediu, factori nutritionali etc.) (septembrie 2013)
• din 2013 am inceput sa descopar universul fascinant al nutritiei si retetelor vegetariene
• întrucât universități de prestigiu ofera cursuri online la acelasi nivel de pregatire ca si cele offline, pe diverse platforme educationale, recomand aceste cursuri de nutritie si genetica pe care le-am urmat: – Child Nutrition and Cooking 2.0, la Stanford University (februarie 2014) – Nutrition for Health Promotion and Disease Prevention, la University of California San Francisco (aprilie 2014) – Epigenetic control of gene expression, la University of Melbourne (iulie 2014) – Diabetes-a Global Challenge, la The University of Copenhagen’s (octombrie 2014) – Nutrition, Health, and Lifestyle: Issues and Insights, la Vanderbilt University (noiembrie 2014)
• In februarie 2015, prin acest blog, am devenit partener oficial al World Thrombosis Day, organizatie afiliata la International Society on Thrombosis and Haemostasis (ISTH), reprezentand astfel Romania impreuna cu Societatea Romana de Hemostaza si Tromboza
• din 2015 folosesc si recomand vitaminele si suplimentele nutritionale bio-identice, de inalta puritate si calitate, produse de seekinghealth.com, compania dr-lui Ben Lynch, ce ofera folat de generatia 4-a (metilfolat L-5-MTHF Quatrefolic), complex de vitamine prenatale cu metilfolat si acid folinic si un portofoliu in continua dezvoltare de suplimente bio-identice, active metabolic
• pentru a continua educatia medicala continua in domeniul geneticii, metilarii, mutatiilor MTHFR si nutrigenomicii, am urmat cursurile online organizate de Seeking Health Educational Institute: • Methylation and Clinical Nutrigenomics – Part 1, despre nutrigenomica clinica, metilare si mutatii genetice asociate (februarie 2015) • Maternal and Pediatric Implications due to MTHFR and Methylation Dysfunction, despre defecte de tub neural, autism, infertilitate, preeclampsie, sindrom Down asociate cu disfunctiile metilarii (martie 2015) • Methylation and Nutrigenomics of Cancer in Prevention, Treatment and Recovery despre diagnostic, preventie si tratament in cancer prin prisma unei abordari personalizate a pacientului pe baza profilului genetic si metabolic (octombrie 2015)
• In mai 2018 am urmat cursul Nutritie de precizie (Nutrigenetica), organizat de Asociatia Romana de Epigenetica si Metabolomica si sustinut de Prof.Dr. Mihai Niculescu, Advanced Nutrigenomics LLC, USA.
Pentru a facilita discutiile despre mutatii MTHFR, trombofilii si tratament nutrigenomic, am creat grupul de facebook: MTHFR Romania.
1. Iosefina, deci ce înseamnă MTHFR?
Atât gena, cât si proteina cu rol enzimatic sintetizata pe baza ei, se numesc MTHFR sau Metilen-Tetra-Hidro-Folat-Reductaza, cu locație citogenetica pe cromozomul 1. Enzima MTHFR este implicata in doua reacții esențiale pentru dezvoltarea si functionarea normala a organismului: • reacția forward cu sinteza de metilfolat (5-Metil THF) – afectata in special de mutatia C667T • reactia backward cu sinteza de tetrahidropterina – afectata in special de mutatia A1298C. (Ref1)
2. Mutațiile genetice se regăsesc la cei cu boli autoimune sau nu este o regulă?
Iosefina Speers – „ Toată lumea are mutații genetice (polimorfisme genetice) însă depinde de stilul de viață, dacă predispoziția genetica se manifesta ca afecțiune. ” In bolile autoimune tiroidiene, boala Hashimoto este descrisă asocierea cu – factori predispozanti HLA-DR3, HLA-DR4 – factori protectivi HAL-DR7. (Ref 2).
3. Care sunt simptomele MTHFR?
Iosefina Speers: Condițiile care sunt asociate cu MTHFR, conform cu CDC, USA (Ref 3 Genopedia) MTHFR „655 disease terms (MeSH) has been reported with MTHFR gene. Disease Term (MeSH) Total Publication/ Meta-analysis Publications Hyperhomocysteinemia 287/8 Thrombophilia 220/18 Colorectal Neoplasms 169/9 Breast Neoplasms 117/10 Hypertension 112/9 Cardiovascular Diseases 106/7 Venous Thrombosis 103/9 Stroke 101/6 Coronary Artery Disease 92/12 Thrombosis 85/7 Diabetes Mellitus, Type 284/4 Abortion, Habitual 83/6 Brain Ischemia 77/9 Stomach Neoplasms 75/7 Neural Tube Defects 67/11 Schizophrenia 66/4 Folic Acid Deficiency 62/3 Arthritis, Rheumatoid 61/3 Pre-Eclampsia 58/4 Adenocarcinoma 55/2 Cleft Lip 55/5 Cleft Palate 55/5 Carcinoma, Squamous Cell 53/1 Down Syndrome 52/10 Lung Neoplasms 51/5 Alzheimer Disease 50/9 Cerebrovascular Accident 49/8 Coronary Disease 49/3 Heart Defects, Congenital 47/2 Esophageal Neoplasms 45/3 Myocardial Infarction 44/4 Kidney Failure, Chronic 41/1 Pregnancy Complications, Hematologic 39/2 Thromboembolism 37/2 Infertility, Male 36/1 Obesity 33/2 Disease Progression 33/0 Migraine Disorders 32/3 Abortion, Spontaneous 31/5 Uterine Cervical Neoplasms 31/3 Atherosclerosis 30/2 Diabetic Nephropathies 29/2 Retinal Vein Occlusion 29/0 Recurrence 29/6 Neoplasms 28/0 Metabolic Syndrome X 28/1 Cognition Disorders 28/2 Pregnancy Complications 25/3 Prostatic Neoplasms 24/1 Urinary Bladder Neoplasms 24/5 Ovarian Neoplasms 23/4 Liver Neoplasms 23/2 Colonic Neoplasms 23/2 Adenoma 22/4 Spinal Dysraphism 22/3 Vascular Diseases 21/1 Parkinson Disease 21/1 Pulmonary Embolism 21/1 Acute Disease 20/2 Carcinoma, Non-Small-Cell Lung 20/1 Vitamin B 12 Deficiency 20/1 Cerebrovascular Disorders 19/3 Cognition 19/2 Depressive Disorder 19/1 DNA Damage 19/0 Postoperative Complications 19/0 Psychiatric Status Rating Scales 19/0 Premature Birth 19/2 Inflammation 19/2 Leukemia, Lymphocytic, Acute 18/3 Neoplasm Recurrence, Local 18/1 Neuropsychological Tests 18/2 Chronic Disease 18/1 Head and Neck Neoplasms 18/1 Activated Protein C Resistance 18/1 Mouth Neoplasms 17/1 Migraine with Aura 16/1 Liver Cirrhosis 16/0 Lymphoma, Non-Hodgkin 16/1 Intracranial Thrombosis 16/0 Arteriosclerosis 16/0 Bipolar Disorder 16/0 Glaucoma, Open-Angle 16/0 Depressive Disorder, Major 15/2 Diabetic Retinopathy 15/1 Carcinoma 15/2 Anemia, Sickle Cell 15/1 Osteoporosis, Postmenopausal 15/0 Pancreatic Neoplasms 14/0 Neoplasm Metastasis 14/2 Alcoholism 14/1 Abruptio Placentae 14/1 Epilepsy 14/0 Diabetes Mellitus 14/0 Fetal Growth Retardation 13/0 Hearing Loss, Sudden 13/1 Aortic Aneurysm, Abdominal 13/0 Behcet Syndrome 13/1 Myocardial Ischemia 13/0 Pregnancy Complications, Cardiovascular 13/0 Polycystic Ovary Syndrome 13/0 Rectal Neoplasms 13/2 Psychotic Disorders 12/1 Osteoporosis 12/1 Infertility, Female 12/3 Inflammatory Bowel Diseases 12/1 Leukemia, Lymphocytic, Acute, L1 12/0 Azoospermia 12/1 Birth Weight 12/0 Cervical Intraepithelial Neoplasia 12/1 Graft vs Host Disease 12/0 Fractures, Bone 11/0 Hematologic Neoplasms 11/0 Diabetic Angiopathies 11/0 Insulin Resistance 11/0 Lymphatic Metastasis 11/0 Multiple Myeloma 11/0 Psoriasis 11/0 Peripheral Vascular Diseases 10/0 Neoplasm Invasiveness 10/0 Kidney Diseases 10/1 Leukemia 10/1 Hyperlipidemias 10/0 Colitis, Ulcerative 10/1 Hearing Loss, Sensorineural 10/1 Fatty Liver 10/0 Arterial Occlusive Diseases 10/1 Autistic Disorder 9/1 Carotid Artery Diseases 9/1 Brain Neoplasms 9/1 Carcinoma, Hepatocellular 9/2 Hepatitis C, Chronic 9/0 Dementia, Vascular 9/1 Diabetes Complications 9/1 Disease Susceptibility 9/2 Multiple Sclerosis 9/0 Oligospermia 9/0 Protein C Deficiency 9/1 Protein S Deficiency 9/0 Prenatal Exposure Delayed Effects 8/0 Schizophrenic Psychology 8/2 Neutropenia 8/0 Papillomavirus Infections 8/1 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 8/1 Leukemia, Myeloid, Acute 8/1 Hypercholesterolemia 8/0 Dementia 8/0 Heart Diseases 8/1 Gastrointestinal Neoplasms 8/1 Blood Coagulation Disorders 8/1 Blood Coagulation Disorders, Inherited 8/0 beta-Thalassemia 8/0 Attention Deficit Disorder with Hyperactivity 7/0 Albuminuria 7/1 Cerebral Hemorrhage 7/0 Cerebral Palsy 7/0 Chromosome Aberrations 7/1 Femur Head Necrosis 7/0 HELLP Syndrome 7/1 Hematologic Diseases 7/0 Crohn Disease 7/1 Diabetes Mellitus, Type 1 7/1 Drug Toxicity 7/1 Dyslipidemias 7/0 Exfoliation Syndrome 7/0 Hypertension, Pregnancy-Induced 7/0 Hyperuricemia 7/0 Liver Diseases 7/0 Lymphoma 7/0 Metabolic Diseases 7/0 Micronuclei, Chromosome-Defective 7/2 Osteonecrosis 7/0 Syndrome 7/0 Thyroid Neoplasms 7/1 Turner Syndrome 6/0 Varicose Veins 6/0 Skin Neoplasms 6/0 Microsatellite Instability 6/0 Memory 6/2 Meningioma 6/0 Meningomyelocele 6/0 Mucositis 6/0 Migraine without Aura 6/0 Lupus Erythematosus, Systemic 6/0 Hypertrophy, Left Ventricular 6/0 Homocystinuria 6/0 Kidney Neoplasms 6/0 Intracranial Hemorrhages 6/0 Ischemia 6/0 Coronary Stenosis 6/1 Helicobacter Infections 6/0 Fetal Death 6/1 Fetal Diseases 6/1 Cerebral Infarction 6/0 Antiphospholipid Syndrome 6/1 Asthma 6/0 Carcinoma, Transitional Cell 5/0 Child Development Disorders, Pervasive 5/0 Carcinoma, Ductal, Breast 5/0 Glioma 5/0 Genomic Instability 5/1 Glaucoma 5/0 Glaucoma, Angle-Closure 5/0 Hemophilia A 5/0 Hip Fractures 5/0 Embryo Loss 5/0 Infertility 5/0 Leukemia, Myeloid, Chronic 5/0 Sinus Thrombosis, Intracranial 5/0 Skin Diseases 5/1 Retinal Artery Occlusion 5/0 Renal Insufficiency, Chronic 5/0 Precancerous Conditions 5/1 Psychomotor Performance 5/1 Osteosarcoma 5/0 Thrombocytopenia 5/0 Stress, Psychological 5/1 Spinal Fractures 5/0 Small Cell Lung Carcinoma 5/0 Stomatitis 4/0 Weight Gain 4/0 Optic Neuropathy, Ischemic 4/0 Overweight 4/1 Nervous System Diseases 4/0 Muscle Spasticity 4/0 Myelodysplastic Syndromes 4/1 Lymphoma, Follicular 4/0 Lymphoma, Large B-Cell, Diffuse 4/0 Lymphoproliferative Disorders 4/0 Meningeal Neoplasms 4/0 Mental Retardation 4/0 Ischemic Attack, Transient 4/0 Intracranial Aneurysm 4/1 Laryngeal Neoplasms 4/0 Hypersensitivity, Immediate 4/0 Drug-Induced Liver Injury 4/0 Diabetic Neuropathies 4/0 Coronary Restenosis 4/0 Colorectal Neoplasms, Hereditary Nonpolyposis 4/0 Constriction, Pathologic 4/1 HIV Infections 4/1 Hemorrhage 4/0 Carcinoma, Renal Cell 4/0 Bone Neoplasms 4/0 Body Weight 4/0 Carotid Stenosis 4/0 Celiac Disease 4/0 Central Nervous System Neoplasms 4/0 Attention 4/1 Anencephaly 4/1 Aneurysm, Dissecting 4/0 Amyotrophic Lateral Sclerosis 4/1 Anemia 3/0 Aneuploidy 3/0 Abnormalities 3/0 Abnormalities 3/0 Atrial Fibrillation 3/1 Avitaminosis 3/0 Bile Duct Neoplasms 3/1 Arthritis, Juvenile Rheumatoid 3/0 Cell Transformation, Neoplastic 3/0 Cataract 3/0 Cholangiocarcinoma 3/1 Choroidal Neovascularization 3/1 Brain Infarction 3/0
Brain Injuries 3/0 Carcinoma, Lobular 3/0 Hemolytic-Uremic Syndrome 3/0 Glioblastoma 3/1 Fetal Membranes, Premature Rupture 3/0 Foramen Ovale, Patent 3/0 Dermatitis, Atopic 3/0 Community-Acquired Infections 3/1 Congenital Abnormalities 3/0 Ductus Arteriosus, Patent 3/0 Disease Models, Animal 3/0 Endometrial Neoplasms 3/0 Eclampsia 3/0 Edema 3/0 Hypoxia-Ischemia, Brain 3/0 Hyperlipoproteinemia Type II 3/0 Mental Disorders 3/0 Mood Disorders 3/0 Lymphoma, T-Cell 3/1 Malnutrition 3/1 Leukemia, Myeloid 3/1 Leukopenia 3/0 Liver Cirrhosis, Alcoholic 3/0 Neoplasms, Second Primary 3/1 Neoplasms, Squamous Cell 3/1 Obstetric Labor, Premature 3/0 Nondisjunction, Genetic 3/0 Osteoporotic Fractures 3/0
Personality Inventory 3/0 Proteinuria 3/0 Placenta Diseases 3/0 Pneumonia 3/1 Seizures 3/1 Vertebral Artery Dissection 3/1 Vitamin B Deficiency 3/1 Vitiligo 3/0 Spondylitis, Ankylosing 3/0 Trisomy 3/0 Subarachnoid Hemorrhage 2/0 Thromboangiitis Obliterans 2/0 Thrombocythemia, Essential 2/0 Spinal Injuries 2/0 Venous Insufficiency 2/0 Urologic Neoplasms 2/0 Uterine Cervical Dysplasia 2/0 Wilms Tumor 2/0 Retinoblastoma 2/0 Retinal Neoplasms 2/0 Purpura, Schoenlein-Henoch 2/0
Radiation Pneumonitis 2/0 Raynaud Disease 2/0 Pleural Neoplasms 2/0 Primary Ovarian Insufficiency 2/0 Prostatic Hyperplasia 2/0 Puerperal Disorders 2/0 Pulmonary Disease, Chronic Obstructive 2/1 Personality Tests 2/0 Pharyngeal Neoplasms 2/0 Peripheral Arterial Disease 2/0 Peripheral Nervous System Diseases 2/1 Pancreatitis 2/1 Obesity, Abdominal 2/0 Nephrosclerosis 2/0 Neuroblastoma 2/0 Neoplasms, Glandular and Epithelial 2/0 Myeloproliferative Disorders 2/0 Limb Deformities, Congenital 2/0 Lipodystrophy 2/0 Leukoaraiosis 2/0 Marijuana Abuse 2/0 Macular Degeneration 2/1 Lymphoma, Large-Cell 2/0 Moyamoya Disease 2/0 Muscle Hypotonia 2/1 Leukoencephalopathies 2/0 Mesenteric Vascular Occlusion 2/0 Mesothelioma 2/0 Hyperplasia 2/0 Hypertension, Pulmonary 2/0
Huntington Disease 2/0 Infection 2/0 Impotence, Vasculogenic 2/0 Hypertriglyceridemia 2/0 Hypoplastic Left Heart Syndrome 2/0 Leukemia, Myelocytic, Acute 2/0 Intracranial Arterial Diseases 2/0 Intelligence Tests 2/0 Executive Function 2/0 Fatigue 2/0 Diarrhea 2/0 Connective Tissue Diseases 2/0 Chorioamnionitis 2/0 Developmental Disabilities 2/0 Diabetes, Gestational 2/0 Gastroschisis 2/0 Gaucher Disease 2/0 Gastrointestinal Diseases 2=0 Gastrointestinal Hemorrhage 2/0 Gallbladder Neoplasms 2/0 Graves Disease 2/0 Glomerulonephritis, IGA 2/0 Hepatic Vein Thrombosis 2/0 Hepatic Veno-Occlusive Disease 2/0 Hodgkin Disease 2/0 Hepatitis B 2/0 Heart Septal Defects, Atrial 2/0 Heart Septal Defects, Ventricular 2/0 Hemochromatosis 2/0 Fibrosis 2/0 Hearing Loss 2/0 Carcinoma, Large Cell 2/0 Carcinoma, Small Cell 2/0 Calcinosis 2/1 Carcinoma, Basal Cell 2/0 Budd-Chiari Syndrome 2/0 Bronchial Hyperreactivity 2/0 Bone Resorption 2/0 Choline Deficiency 2/0 Carotid Artery, Internal, Dissection 2/1 Cerebral Arterial Diseases 2/0 Arthritis, Psoriatic 2/0 Astrocytoma 2/1 Anoxia 2/0 Aortic Valve Stenosis 2/0 Aortic Aneurysm 2/0 Arsenic Poisoning 2/1 Auditory Threshold 2/0 Adenomatous Polyps 2/0 Antithrombin III Deficiency 2/0 Anus, Imperforate 1/0 Anxiety Disorders 1/0 Aneurysm, Ruptured 1/0 Angina, Unstable 1/0 Anemia, Iron-Deficiency 1/0 Alcohol Withdrawal Seizures 1/0 Alcoholic Neuropathy 1/0 Alopecia Areata 1/0 alpha-Thalassemia 1/0 Adrenoleukodystrophy 1/0 Affective Disorders, Psychotic 1/0 Acute Lung Injury 1/0 Adenocarcinoma, Follicular 1/0 Adenocarcinoma, Mucinous 1/0 Abnormalities, Drug-Induced 1/0 Abnormalities, Multiple 1/0 Achievement 1/0 Acromegaly 1/0 Atrophy 1/0 Biliary Tract Neoplasms 1/0 Barrett Esophagus 1/0 Basal Ganglia Diseases 1/0 Beckwith-Wiedemann Syndrome 1/0 Apnea 1/1
Aortic Coarctation 1/0 Aortic Rupture 1/0 Asphyxia Neonatorum 1/0 Asthenozoospermia 1/0 Arthritis, Reactive 1/0 Cerebellar Neoplasms 1/0 Cardiomyopathy, Hypertrophic 1/0 Cardiovascular Abnormalities 1/0 Chondrosarcoma 1/0 Chickenpox 1/0 Chromosomal Instability 1/0 Chromosome Deletion 1/0 Clubfoot 1/0 Cluster Headache 1/0 Coagulation Protein Disorders 1/0 Brain Damage, Chronic 1/0 Brain Diseases 1/0 Blood Platelet Disorders 1/0 Blindness 1/0 Bronchopulmonary Dysplasia 1/0 Brain Stem Neoplasms 1/1 Bone Diseases, Metabolic 1/0 Bone Marrow Diseases 1/0 Burkitt Lymphoma 1/0 CADASIL 1/0 Cadaver 1/0 Carcinoma, Pancreatic Ductal 1/0 Carcinoma, Medullary 1/0 Headache Disorders, Secondary 1/0 Heart Septal Defects 1/0 Hemoglobinopathies 1/0 Hemiplegia 1/0 Hepatitis C 1/0 Hepatitis, Chronic 1/0 Hepatitis, Toxic 1/0 Hepatolenticular Degeneration 1/0 Heredodegenerative Disorders, Nervous System 1/0 Hernia, Umbilical 1/0 Hepatitis 1/0 Hemostatic Disorders 1/0 Hemophilia B 1/0 Glomerulosclerosis, Focal Segmental 1/0 Glucose Intolerance 1/0 Glucosephosphate Dehydrogenase Deficiency 1/0 Graft Occlusion, Vascular 1/0 Habituation, Psychophysiologic 1/0 Hashimoto Disease 1/0 Glomerulonephritis 1/1 Genital Diseases, Female 1/0 Gastritis 1/0 Gastritis, Atrophic 1/0 Fractures, Compression 1/0 Fractures, Spontaneous 1/0 Forearm Injuries 1/0 Fibromyalgia 1/0 Femoral Neck Fractures 1/0 Demyelinating Diseases 1/0 Depression, Postpartum 1/0 Cross Infection 1/0 Cryoglobulinemia 1/0 Data Display 1/0 Delayed Graft Function 1/0 Coma 1/0 Constipation 1/0 Coronary Thrombosis 1/0 Discrete Subaortic Stenosis 1/0 Diseases in Twins 1/0 Drug Eruptions 1/0 Dyspnea 1/0 Esophagitis, Peptic 1/0 Essential Tremor 1/0 Extraversion (Psychology) 1/0 Eye Diseases 1/0 Fallopian Tube Neoplasms 1/0 Ehlers-Danlos Syndrome 1/0 Endometriosis 1/1 Epilepsy, Post-Traumatic 1/0 Epistaxis 1/1 Equinus Deformity 1/0 Escherichia coli Infections 1/0 Esophageal and Gastric Varices 1/0 Intermittent Claudication 1/0 Intestinal Atresia 1/0 Intracranial Arteriosclerosis 1/0 Intracranial Embolism 1/0 Kidney Failure 1/0 Intraoperative Complications 1/0 Lactose Intolerance 1/0 Leukemia, Lymphocytic, Acute, L2 1/0 Leukemia, Lymphocytic, Chronic 1/0 Leukemia, Lymphocytic, Chronic, B-Cell 1/1 Lead Poisoning 1/0 Learning 1/0 Leg Ulcer 1/0 Legg-Calve-Perthes Disease 1/0 Legg-Perthes Disease 1/0 Leukemia, B-Cell, Acute 1/0 Leukemia, B-Cell, Chronic 1/0 Leukemia, Lymphocytic 1/1 Hypoxia, Brain 1/0 Hypoglycemia 1/0 Hypopituitarism 1/0 Hypertrophy 1/0 Hypertrophy, Right Ventricular 1/0 Infant, Newborn, Diseases 1/0 Infant, Premature, Diseases 1/0 Infarction, Anterior Cerebral Artery 1/0 Immunologic Deficiency Syndromes 1/0 Hyperalgesia 1/0 Hyperbilirubinemia, Neonatal 1/0 Hyperglycemia 1/0 Hyperinsulinism 1/0 Hypertension, Renal 1/0 Hyperthyroidism 1/0 Hypersensitivity 1/0 Mental Status Schedule 1/0 Microvascular Angina 1/0 Metabolism, Inborn Errors 1/0 Memory Disorders 1/0 Meniere Disease 1/0 Mental Health 1/1 Mental Recall 1/0 Multiple Sclerosis, Relapsing-Remitting 1/0 Multiple Chemical Sensitivity 1/0 Multiple Organ Failure 1/0 Motor Skills 1/0 Mouth Abnormalities 1/0 Mitral Valve Prolapse 1/0 Lymphoma, Large-Cell, Diffuse 1/0 Lymphoma, Lymphoblastic 1/0 Lymphoma, B-Cell 1/0 Maze Learning 1/0 Medulloblastoma 1/0 Marfan Syndrome 1/0 Leukoencephalitis, Acute Hemorrhagic 1/0 Lichen Planus, Oral 1/0 Leukemia, T-Cell, Acute 1/0 Liver Diseases, Alcoholic 1/0 Low Tension Glaucoma 1/0 Musculoskeletal Diseases 1/0 Myasthenia Gravis 1/0 Myopia, Degenerative 1/0 Nasopharyngeal Neoplasms 1/0 Nausea 1/0 Necrosis 1/0 Neoplasms, Multiple Primary 1/0 Nephritis 1/0 Neoplasm, Residual 1/0 Neurotoxicity Syndromes 1/0 Nephrotic Syndrome 1/0 Nerve Degeneration 1/0 Nervous System Malformations 1/0 Obesity, Morbid 1/0 No-Reflow Phenomenon 1/0 Ocular Hypertension 1/0 Opisthorchiasis 1/0 Optic Atrophy, Hereditary, Leber 1/0 Pancreatitis, Chronic 1/0 Panuveitis 1/0 Pain 1/0 Pain Perception 1/0 Oral Ulcer 1/0 Orientation 1/0 Osteoarthritis 1/0 Peritoneal Neoplasms 1/0 Phenylketonurias 1/0 Phlebitis 1/0 Paresis 1/0 Parkinsonian Disorders 1/0 Perception 1/0 Periodontitis 1/0 Psychoses, Substance-Induced 1/0 Psychoacoustics 1/0 Psychological Tests 1/0 Psychometrics 1/0 Psychomotor Disorders 1/0 Pseudarthrosis 1/0 Pseudotumor Cerebri 1/0 Protein-Energy Malnutrition 1/0 Pregnancy in Diabetics 1/0 Pregnancy, Ectopic 1/0 Plaque, Atherosclerotic 1/0 Pleasure 1/0 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 1/0 Polycythemia 1/0 Polycythemia Vera 1/0 Reaction Time 1/0 Renal Artery Obstruction 1/0 Purpura, Thrombotic Thrombocytopenic 1/0 Pulmonary Fibrosis 1/0 Pulmonary Valve Stenosis 1/0 Retinal Diseases 1/0 Resilience, Psychological 1/1 Respiratory Distress Syndrome, Adult 1/0 Respiratory Sounds 1/0 Rheumatic Heart Disease 1/0 Rhinitis, Allergic, Perennial 1/0 Rhinitis, Allergic, Seasonal 1/0 Schizotypal Personality Disorder 1/0 Scleroderma, Systemic 1/0 Sepsis 1/0 Sex Chromosome Aberrations 1/0
Shock, Septic 1/0 Sleep 1=0 Sleep Apnea, Obstructive 1/0
Wounds and Injuries 1/0 Virilism 1/0 Visual Perception 1/0 Weight Loss 1/0 Vaginosis, Bacterial 1/0 Varicocele 1/0 Upper Extremity Deep Vein Thrombosis 1/0
Urogenital Abnormalities 1/0 Verbal Learning 1/0 Vomiting 1/0 von Willebrand Diseases 1/0 Wechsler Scales 1/0 Wegener Granulomatosis 1/0 Splenomegaly 1/0 Smith-Lemli-Opitz Syndrome 1/0 Somatoform Disorders 1/0 Spina Bifida Occulta 1/0 Stomatitis, Aphthous 1/0 Systemic Inflammatory Response Syndrome 1/0 Temporomandibular Joint Disorders 1/0 Tension-Type Headache 1/0 Tetralogy of Fallot 1/0 Thrombasthenia 1/1 Substance Withdrawal Syndrome 1/0 Thrombophlebitis 1/0 Tumor Virus Infections 1/0 Thrombotic Microangiopathies 1/1 Thymus Hyperplasia 1/0 Thyroiditis, Autoimmune 1/0 Tibial Fractures 1/0 Tooth Abnormalities 1/1 Trauma, Nervous System 1/0
Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number in Genopedia reflects only the indexed disease term without children terms, but the number in the HuGE Literature Finder reflects all text searches of the disease term including the indexed term and corresponding children terms.
3. Ce analize sunt conclundente pentru MTHFR ?
Iosefina Speers: „Pentru a avea o imagine cat mai completa si complexa a parametrilor starii de sănătate din punct de vedere a mutatiilor MTHFR si a altor mutatii asociate, precum si a echilibrului hemostatic, analizele de laborator pe care le recomand sa fie efectuate pre-conceptional si in timpul sarcinii la mama sunt:
1. Un test genetic amplu care verifica prezenta a 600.000-700.000 SNP, pentru cunoașterea tuturor mutațiilor asociate, necesare pentru diagnostic complex si tratament personalizat nutrigenomic (ex mutatiile COMT pentru tratamentul cu metilfolat si alti donori de grupari metil). De preferat sa fie facut pre-conceptional, pentru a stii de la inceput care sunt mutatiile genetice de interes in aria trombofiliei.
2. Panelul de teste de trombofilie ereditara si dobandite este ideal sa se faca INAINTE de a ramane insarcinata sau de a lua tratamente contraceptive.
Aceste teste sunt:
a) Trombofiliile ereditare, teste disponibile in laboratoarele din Romania: • mutatia G1691A a genei factorului V al coagularii (factorul V Leiden) • mutatia H1299R a genei factorului V al coagularii (factor V HR2) • mutatia G20210A a genei factorului II Protrombina al coagularii • mutatia C677T a genei MTHFR • mutatia A1298C a genei MTHFR • mutatia Val34Leu a genei factorului XIII al coagularii • mutatia 675 4G/5G a genei PAI 1 • mutatia 844 a genei PAI-1 • mutatia 455 G>A a genei pentru fibrinogen • mutatiile EPCR • deficienta de antitrombina III • deficienta de proteina C • deficienta de proteina S.
b) Trombofiliile dobandite: • concentratia crescuta de homocisteina serica (hiperhomocisteinemia) • prezenta de anticorpi din Sindromul antifosfolipidic (SAFL): • anticorpii anticardiolipina, • anticoagulantul lupic, • anticorpii antibeta 2 glicoproteina I.
3. Teste de biochimie, hematologie
a) Concentratia serica de folati serici • test nespecific pentru metilfolat întrucât testul sumează toate tipurile de folat seric (acid folic seric nemetabolizat UMFA, metilfolat, acid folinic, tetra-hidro-folat etc). Este bine sa fie făcut pre-concepțional, întrucât se recomanda un tratament de suplimentare cu folat cu cel puțin 3 luni pre-concepție si se folosește acest test pentru a verifica tratamentul.
b) Concentratia de folat eritrocitar • arata statusul concentrației de folat intracelular, mult mai relevant si specific decat cel seric.
c) Concentratia serica de homocisteina • trebuie repetata regulat pentru a o mentine in jur de intervalul optim 6-7 micromol/L.
d) Concentratia serica de vitamina B12 (metilcobalamina).
e) Concentratia urinara de acid metilmalonic – se indica in caz de suspiciune deficit de B12
f) Concentratia eritrocitara de magneziu: • Mg este esential pentru sinteza de ADN si ARN • Mg este complexat de ATP si esential pentru energia celulara • Mg este implicat in conductia nervoasa, transportul ionic, si cofactor pentru multe enzime
g). Hemograma cu urmarirea indicilor eritrocitari • hemoglobina, hematocrit pentru a verifica o eventuala anemie • VEM (volumul eritrocitar mediu): • numar plachete (trombocite)
h). Sideremie, feritina si urmarire VEM • Scopul acestor teste este de monitorizare a necesarului/deficitului de fier.
i) D-Dimeri • nivel optim sub 0.5 mg/dl.
j).Activitate anti Factor X activat • pentru monitorizarea tratamentului anticoagulant injectabil (ex. Clexane • in scop profilactic, acest parametru trebuie mentinut in intervalul desemnat pe buletinul de analiza
k) Screening de coagulare PT, AP, APTT l) Functia tiroidiana: T3, FT3, T4, FT4, TSH, anti TPO, anti TG, revers T3. m) Analize uzuale de screening si adaptate pentru fiecare pacienta etc. Teste de laborator la tata Ideal, ar fi bine sa se faca la tatal viitorului copil, pre-conceptional, un test genetic amplu pentru cunoasterea tuturor mutatiilor asociate, mai ales pentru cunoasterea mutatiilor homozigote, ce se vor transmite cu siguranta la embrion ca mutații heterozigote Riscul trombotic in sarcina la persoanele purtatoare de mutatii MTHFR Sarcina este in mod fiziologic o stare caracterizata de hipercoagulabilitate. Prezenta de mutatii încadrate la trombofilii ereditare si/sau dobandite creste riscul de a dezvolta o tromboza variabil, in functie de tipul mutatiei
. 4. Ce este de făcut atunci când depistam o mutație MTHFR? Conștientizare – asumarea responsabilității si o atitudine proactiva. Atitudine terapeutica Dieta si stil de viata
• autoeducatie in ceea ce privește simptomele mutațiilor MTHFR
• informarea membrilor familiei pentru testarea lor genetica ca purtatori de mutatii MTHFR
• preventia trombozelor prin evitarea factorilor de risc pro-trombotici :• fumat, • sedentarism,• obezitate• contraceptive• imobilizare prelungita etc
• alimentatie sanatoasa, bogata in legume verzi proaspete, cu mult folat natural
• scaderea aportului de alimente procesate, chimizate, a conservelor, gratarelor, afumaturilor
• cresterea aportului de mancare gatita in casa, cunoscand exact cantitatile si tipurile de alimente & condimente folosite
• cresterea aportului de alimente proaspete, nepreparate termic, a legumelor verzi bogate in folat
• scaderea aportului de alimente bogate in metionina daca nivelul de homocisteina e marit
• evitare bauturi carbogazoase si indulcitori pe baza de aspartam/Nutrasweet care contine fenilalanina; fenilalanina necesita BH4 pentru metabolizare, care insa e scazut, si consumul de aspartam va agrava simptomatologia
• scaderea aportului de proteine de origine animala si folosirea de proteine vegetale este benefica la pacientii cu encefalopatie. (26).
• eliminarea expunerii la toxice de tip mercur, plumb si aluminiu, care inhiba enzima DHPR ce recicleaza BH2 in BH4. Aceasta masura include o atitudine selectiva fata de : alimente bio, obtinute din culturi fara pesticide si erbicide
1. fara alimente modificate genetic
2. modul de pregatire si de pastrare a hranei cat mai putin procesat si chimizat
3. produsele de ingrijire personala bio & fara conservanti chimici
4. produsele de vopsire a parului bio, fara saruri metalice sau plumb (ex. Henna)
5. produse de curatenie bio & fara conservanti chimici
6. fara expunere profesionala la noxe
7. inlocuire plombe cu amalgam
8. mediu ambiant cu minima poluare atmosferica etc.
9. folosirea cosmeticelor bio, fara adaos de substante chimice, obtinute din uleiuri vegetale, nu din petrol, fara conservanti chimici
Vitamine si suplimente Suplimentarea cu metilfolat Metilfolatul sustine reciclarea BH4 din BH2. Concentratii crescute de metilfolat stimuleaza reciclarea BH4 prin favorizarea reactiilor catalizate de DHFR si MTHFR.
Suplimentarea cu metilfolat trebuie sa tina cont de:
• statusul mutatiilor COMT si VDR, intrucat persoanele care au activatate scazuta de metabolizare a gruparilor metil nu vor putea tolera metilfolatul – pentru a afla statusul acestor gene trebuie efectuata testarea ancestry.com/dna sau alt test asemanator, intrucat nu stiu sa se lucreze in Romania
• alte suplimente cu grupari metil: DMG, TMG (betaina), MSM, metil B12, SAMe, metilfolat MTHF, cholina, metionina, DMSO, pentru a nu supra-incarca cu grupari metil.
Suplimentarea cu B12. • se incepe inaintea introducerii metilfolatului • are rol de a preveni dereglarea metabolica denumita capcana folatilor (deficienta tisulara de B12) • se administreaza B12 de tip metil sau hidroxi (NU se administreaza cianB12), in functie de toleranta la gruparile metil (in functie de mutatiile COMT si VDR) Suplimentare cu citrulina Citrullina cu metilfolat este indicat in acest sens intrucat combate hiperamoniemia pe 2 cai, atat prin sustinerea ciclului ureei, cat si prin aport de metilfolat. • Folosirea de carbune medicinal • pentru scaderea absorbtiei de amoniac de la nivel digestiv • are proprietatea de a absorbi si diferite gaze, coloranti, toxine bacteriene. Evitare completa suplimente cu acid folic • competitioneaza cu dihidrobiopterina BH2 pe enzima DHFR umana, care este o enzima lenta (Ref4) • este un inhibitor al enzimei MTHFR (Ref5)
Suplimentare cu acid folinic • MTHFR 1298 afecteaza ciclul folatului si purtatorii acestei mutatii beneficiaza de suplimentarea cu acid folinic care asigura o cale alternativa de sinteza a 5,10 metilen THF • astfel pot face conversia dUMP in dTMP care va fi folosit apoi in sinteza de ADN
Suplimentare cu SAM • cu rol reglator asupra functiei enzimei MTHFR, stimuleaza reactia backward de reciclare a BH4. • deoarece SAMe este donorul universal de grupari metil, administrarea sa trebuie facuta cu prudenta si numai ca ultima solutie • este recomandata intai optimizarea functionarii ciclului metilarii/metioninei pentru ca organismul sa sintetetizeze singur atat SAMe cat este necesar. Evitare completa a medicamentelor care scad suplimentar nivelul de folat: • metotrexat (antagonistii de folat) • anti-inflamatoare non-steroidiene: ibuprofen (inhibitor competitiv) • medicamentele care contin estrogen (contraceptivele orale), care scad nivelul de magneziu, B2, B6, folat • colestiramina (efect de cuplare cu colesterolul, vitamine liposolubile A, D, K si folat in intestin) • anti-epileptice (antagonisti de folat): carbamazepina, oxcarbazepina, fenitoina si acid valproic • medicamentele care contin sulf si inhiba dihidrofolatreductaza (sulfametoxazol, sulfasalazina) • antagonistii de receptor H2 din celulele gastrice vor determina scaderea absorbtiei de folat (cimetidina, ranitidina etc.) prin cresterea pH-ului gastric peste nivelul de 5.5-6 (nivel optim absorbtie folat)
Managementul stresului & suport neuropsihic Pentru pacientii care sufera de anxietate, insomnie, ADD/ADHD, si alte tulburari datorate sintezei deficitare de neurotransmitatori se pot folosi diverse abordari cu efect relaxant si anxiolitic.
Dragă Iosefina, îți dorim multă sănătate, mult respect și recunoștință pentru efortul care îl depui ca voluntar pe Grupurile de facebook : MTHFR ROMÂNIA și TIROIDA ROMÂNIA.
Interviu organizat de Tiroda Romania 🇷🇴
Referinte: 1. http://tuestidoctorultau.ro/ 2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647156/ 3.https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=MTHFR&geneID=4524&typeSubmit=GO&check=y&typeOption=gene&which=2&pubOrderType=pubD 4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730961/ 5. http://ajcn.nutrition.org/content/early/2015/01/07/ajcn.114.08660
