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Blog despre mutatiile genei MTHFR, metilare si nutrigenomica

Teste genetice

Laboratoare pentru teste genetice de tip SNP

Laboratoare in afara tarii:

1. Ancestry

  • testeaza peste 700.000 mutatii SNP, inclusiv majoritatea mutatiilor de trombofilie, intolerante la gluten, lactoza, neurotransmitatori, enzime hepatice, etc.
  • cumparat de la
    • ancestry.com din SUA costa 99 USD, la care se adauga transport si vama
    • ancestry.co.uk din UK costa 79 GBP, la care se adauga doar transport cat timp UK este inca in UE
  • se obtine un fisier raw data in format txt ce contine in format tabelar alelele gasite la fiecare SNP testat
  • nu ofera raport de interpretare, acesta se obtine folosind unul din website-urile specializate de mai jos de ex.:

A. geneticgenie.org (gratuit)

  • analiza automata a fisierului 23andme.com si ancestry.com in format zip
  • include 2 rapoarte de interpretare:
    • raport metilare pentru pentru genele:  COMT, VDR, MAO A, ACAT  1-02, MTHFR , MTR, MTRR, BHMT, AHCY, CBS
    • raport detoxifiere pentru CYP, GST, SOD, NAT.

B. StrateGene

  • software dezvoltat de Dr. Ben Lynch & Seeking Health Educational Institute
  • compatibil cu fisierul raw data de la 23andme.com si ancestry.com
  • cost 45USD
  • raport ce include caile metabolice si variantele homo/hetero/normal pentru genele implicate
  • raport foarte detaliat pe genele:
    • CORE SNPs: SLC19A1, BCO1,MTHFD1, FUT2, MTHFR, NQO1, MTRR, HFE, MAT1A, PEMT, CBS, FADS1, SOD2, SOD3, GSTP1, G6PD, GPX1, NOS3, SULT1A1, MAOA, MAOB, COMT, AOC1 (DAO), NAT2
    • BONUS SNPs: TNFalpha, LRRK2, VDR, APOE

C. MTHFRsupport.com

  • software dezvoltat de Sterling Hill – raport de 65 pagini
  • raportul este in format tabelar, ce include locatia, numele mutatiei, alela ded risk, alelele gasite si interpretarea lor cu background color (rosu homozigot, galben heterozigot, verde normal)
  • analiza automata a fisierului 23andme.com si ancestry.com in format zip
  • cost 30USD
  • raport detaliat pe domenii de interes: detoxifiere hepativa faza I si II, ciclul metilarii, activitate COMT, neurotransmitatori, metabolism alcool, ciclu trans-sulfurare, tulburari de coagulare, intoleranta la gluten, functie mitocondriala, sanatate vizuala
  • update-uri ulterioare gratuite, in prezent a ajuns la ver. 2.9
  • emailul pentru a lua legatura cu autoarea Sterling Hill – contact@mthfrsupport.com
  • exemplu de raport de interpretare folosind fisier 23andme: https://mthfrsupport.com/wp-content/uploads/2019/04/SAMPLE-REPORT_Variant_Report_v2.9-23andMe.pdf
  • exemplu de raport de interpretare folosind fisier ancestry: https://mthfrsupport.com/wp-content/uploads/2019/04/SAMPLE-REPORT_Variant_Report_v2.9-AncestryDNAv2.pdf

D. TrueReport

  • analiza automata a fisierului 23andme.com si ancestry.com
  • cost 29USD
  • raport detaliat pe domenii de interes: APOE, Autism-Related Genetics, Brain Health Genetics, Clotting Factors, Detoxification Genetics, Estrogen Metabolism Genetics, Fatty Acid & Lipid Metabolism, GI Health Genetics, Heart Health Genetics, Immune-Related Genetics, Iron & Hemochromatosis-Related Genetics, Methylation Genetics (MAT1A, ACAT, AHCY, BHMT, CBS, COMT, GAD1, MAOA, MTHFR, MTR, MTRR, SLC19A1), Mitochondrial Genetics, Oxalate-Related Genes, SHBG: Sex Hormone Binding Globulin, Thyroid, Vaccine Adverse Events, Vitamin A Metabolism, Vitamin D Metabolism
  • update-uri ulterioare gratuite, in prezent a ajuns la ver. 2.0
  • emailul pentru a lua legatura cu autorul Michael McEvoy pe pagina true.report/contact
  • exemplu de raport de interpretare True Report : https://metabolichealing.com/download/Nutrigenomics-Sample-Report-v2.0.pdf

6. codegen.eu

  • gratuit
  • arata riscurile de a dezvolta boli, pe baza prezentei mutatiilor genetice
  • riscurile sunt clasificate in Good, Bad, Warning, Info
  • domeniile de interes sunt Aging, Cancer. Cardiovascular, Chemdependency, Developmental, Hematological, Immune, Infection, Metabolic, Neurological, Pharmacogenomic, Psych,Renal, Reproduction, Vision
  • programul are subcapitolele (la fiecare fiind descrise mutatiile in cauza, cu rs#, hetero/homozigot):
    – TOP GENOTYPES unde sunt sintetizate cele mai mari riscuri de a dezolta o boala
    – TOP ESTABLISHED NEGATIVE ASSOCIATIONS
    – VITAMINS AND NUTRIENTS
    – FITNESS.

2.GX Sciences

  • raport de interpretare inclus
  • cost in functie de panelul selectat
  • ofera posibilitatea efectuarii a mai multor tipuri de teste genetice, (paneluri) pe diverse profiluri: neurologic etc

3.Holistic Health International (Amy Yasko)

4.OneOme

Laboratoare din Romania

Majoritatea laboratoarelor: Medcenter,  Medlife,  Medicover,  Medsana,  Personal Genetics,  Regina Maria etc. (lista nu este completa) efectueaza uzual teste genetice pentru mutatiile genei MTHFR de tip A1298C si C677T.

SYNLAB

  • testare de ansamblu – Cariotip postnatal molecular – array CGH (750.000 mutatii SNP) – 4200 RON
  • mutatii VDR – Vitamina D3 Receptor (gena VDR) – genotipare (VDR)* – 600 RON
  • Mutatiile genei Diaminoxidazei (DAO) – 4 variante genetice* -1700 RON
  • Fenilcetonuria (PKU) – gena PAH – MLPA* 1800 RON
  • mutatii detoxifiere hepatica
    • Genotipare CYP2c19(Citocrom P450 2c19) – 1500 RON
    • Genotipare CYP2D6(Citocrom P450 2D6) – 2250 RON
    • Genotipare Apo E4 – Apolipoproteina E – 500 RON
    • Gena Glutathione-S-transferazei – polimorfism (GSTT1)* – 1400 RON
    • Gena SOD1 (superoxid dismutaza)* – 2300 RON
    • Genotipare CYP1A2 (Citocrom P450 1A2) – secventiere* – 1000 RON
    • Metabolizarea cafeinei – test genetic (CYP1A2-163A/C)* – 190 RON
    • Sindrom Gilbert – gena UGT1A1* – 570 RON
    • 21-Hydroxylase deficiency (CYP21A2-gene) – 1900 RON
    • Hemocromatoza tip 1- gena HFE mutatiile C282Y, H63D, S65C – screening, RT-PCR* – 390RON
    • Hemocromatoza tip 2B (HAMP) – secventiere* – 1450 RON
  • testare HLA
    • HLA A Alele (HLAM)* – 300 RON
    • HLA B Alele (HLBM)* – 300 RON
    • HLA B-27 (HB27M)* – 200 RON
    • HLA Cw Alele (HLCM)* – 300 RON
    • HLA DQ Alele (HLDQM)* – 300 RON
    • HLA DQ2 / HLA DQ8 – suspiciune de boala celiaca (PCR)* – 400 RON
    • HLA DR Alele (HLDRM)* – 300 RON
    • HLA tipare – HLA A, HLA B, HLA C, HLA DR, HLA DQ (BUCHLA) – 1200 RON

MEDLIFE

  • Genotipare ApoE  – 265 RON
  • Genotipare CYP2D6 – 270 RON

SYNEVO

  • Apolipoproteina E –Genotipare 473 RON
  • Genotiparea CYP2C9 (Anticoagulante Orale) – 214 RON
  • Genotipare CYP2C19 – 441 RON
  • Glutation S transferaza (variante genetice GST – P1, T1 si M1) – 697 RON
  • Gena VKORC1 (Analiza Polimorfism Genetic) – 666 RON
  • Variante Genetice Enzima Cyp2D6 (Citocrom P450) – 1640 RON
  • Sindrom Adrenogenital (Deficit 11-Beta Hidroxilaza)-Cyp11B1 – 3180 RON
  • Sindrom Adrenogenital (Deficit De 21-Hidroxilaza)-Mutatii Cyp21A2 – 3895 RON
  • Testare genetică DAO (RS205, RS226, RS101, RS104) – 1095 RON
  • Predispozitie genetica boala celiaca (HLA-DQ2/DQ8) – 605 RON.

Advanced Nutrigenomics, Genetx:

  • testare prin secventiere (cea mai sigura metoda de diagnostic)
  • rog persoanele interesate sa isi faca acest test sa ma contacteze pentru a obtine un voucher de reducere de 10% la achizitia acestui test
  • testare farmacogenetica PGx:
  • testare nutrigenetica NGx:
    • include raport nutrigenetic si indicatii alimentare
    • pretul este de 700 euro
    • exemplu raport aici

Resurse si bibliografie aditionala

GENA MTHFR, MUTATIILE C677T & A1298C SI CICLUL METILARII

  1. Dr. Ben Lynch:
  2. Dr. James Robert – heartfixer.com, website dedicat despre functionarea normala a ciclului metilarii, dar si in prezenta diverselor combinatii de mutatii de gene MTHFR 677 & 1298 plus restul genelor implicate
  3. Dr. Mark Hyman: articol Maximizing methylation the key to healthy aging
  4. Dr. Suzy Cohen – articole Methylation problems, Methylation, Genes, Methylation and your Health
  5. Dr. Charles Jones -blog MTHFR, Medicamente contraindicate, Nitrous-oxide
  6. Dr. Jockers.com – articol Understanding methylation
  7. U.S. National Library of Medicine – Genetics Home Reference – despre gena MTHFR
  8. Pubmed – Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR)
  9. PubMed – literatura publicata pe PubMed despre MTHFR
  10. SNPedia (baza de date despre SNP-uri) – MTHFR 677, MTHFR 1298
  11. Dr. Bruce Lipton – video despre interactiunea dintre Mediu – Proteine reglatoare – ADN – ARN – Proteine
  12. Dr. Kendal Stewart – despre metilare
  13. labtestsonline.org, descrierea mutatiilor MTHFR din punct de vedere a testarii de laborator
  14. Mind Body Green: articol Methylation: Why It Matters For Your Immunity, Inflammation & More
  15. MTHFR Resource Center – un website care contine multiple prezentari, documente, linkuri, resurse
  16. Dr. Nancy Mullan – articol MTHFR+, Methyl Groups, and Methylation,

TRATAMENT NUTRIGENOMIC

Mutatiile genei MTHFR si patologia neurologica 
  1. Richard Van Konynenburg, Ph.D. – Sindromul de oboseala cronica, Glutathione Depletion—Methylation Cycle Block
  2. MTHFR, glutation si autism, blog despre glutation – articol MTHFR and Autism
  3. Despre autism si mutatiile MTHFR: articol I’M A COMPOUND, HETERO MTHFR! NOW WHAT?

Dr. Amy Yasko – tratament specializat pentru copiii cu autism

Nancy Mullan MD

Mutatiile genei MTHFR si patologia de tip boli autoimune

  1. S-Adenosylmethionine-dependent methylation modulates T cell immune response and lupus autoimmunity
  2. MTHFR C677T and A1298C polymorphisms are associated with MTX toxicity in RA patients

Informatii despre alimente si nutrienti

  1. http://nutritiondata.self.com/ – compara alimente in functie de continutul in diversi nutrienti
  2. http://foodpharmacy.com/ – software gratuit pentru Windows si Mac
  3. http://orthomolecular.org/
  4. Dietary Reference Intakes for … Folate, Vitamin B12 – Institute of Medicine (US)
  5. US Department National Institute of Health – despre folat

Vitamine, suplimente nutritionale – De ce acidul folic  NU este recomandat

  1. Dr. Ben Lynch –
  2. Seeking Health Blog – Folate – The Dangers & Differences
  3. US Institute of Medicine – http://www.ncbi.nlm.nih.gov/books/NBK114318/
  4. MTHFR Gene Mutation – https://www.facebook.com/groups/230824260340671/
  5. Life Extension – Why So Many People Require The Metabolically Active Form of Folic Acid
  6. The Healthy Home Economist – How Folic Acid is Making Us Sick
  7. Health Home and Happiness – Folate vs Folic Acid...
  8. Peter Smith – Could a Gene Mutation be causing your depression or bipolar
  9. MTHFR Support Australia – Avoid Folic Acid Containg Foods and Drugs National
  10. Chris Kresser – Folate vs folic acid
  11. Stephanie Seneff, PhD – Folic acid and glyphosate
  12. Selfhacked.com – 16 Proven Benefits of Vitamin B9 (Folate, Folic Acid) – Some Will Surprise You

SOCIETATI MEDICALE – Nutritie & Nutrigenomica

  1. Australasian College of Nutritional and Environmental Medicine – ACNEM
  2. Seeking Health Educational Institute – cursuri de nutrigenomica clinica – SHEI
  3. International Society of Nutrigenetics & Nutrigenomics – ISNN
  4. Orthomolecular Medicine
  5. Societatea Romana de Diabet, Nutritie si Boli Metabolice
  6. American Academy of Environmental Medicine – AAEA.

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