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Home › Blog › Panel complet teste metabolism folati si metilare
Panel complet teste metabolism folati si metilare

Panel complet teste metabolism folati si metilare

Posted 10 August 2023
Last updated 17 July 2024

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panel complet teste metabolism folati si metilare

Panel complet teste metabolism folati si metilare

Un articol scurt si la subiect ce include o lista ce se doreste (cat mai) completa de teste de efectuat pentru verificarea metabolismului folatilor si ciclul metilarii.

A. Testare genetica metabolica extinsa

Testarea genetica metabolica este necesara pentru identificarea mutatiilor de tip SNP din ciclurile metabolice:

  1. Ciclul folatilor:
    • SLC19A1 (transportor seric de folati si antifolati)
    • FOLR1 (receptorul de metilfolat la adult)
    • FOLR2 (receptorul de metilfolat fetal/placental)
    • DHFR (dihidrofolat reductaza)
    • MTHFD1,
    • MTHFD1L,
    • SHMT1 (enzima ce sintetizeaza acid folinic)
    • MTHFS,
    • MTHFR (enzima ce sintetizeaza metilfolat)
    • TYMS (enzima ce sintetizeaza timidilat)
  2. Ciclul metilarii :
    • MTR (metionin sintetaza, enzima cheie a metilarii)
    • MTRR,
    • BHMT
    • MAT1A (enzima ce produce SAM)
    • MAT2B,
    • AHCY
  3. Metabolism vitamina B12:
    •  TCN1,
    • TCN2,
    • MTR,
    • MTRR,
    • MMUT,
    • MMAB
  4. Enzime de transmetilare:
    • COMT (Catecol O Metil Transferaza)
    • HNMT (Histamin N Metil Transferaza)
    • BHMT (Betain H Metil Transferaza)
    • GAMT (Guanidin Acetat Metil Transferaza)
    • PNMT (Feniletanolamina N Metil Transferaza)
    • PEMT (Fosfatidil Etanolamina N Metil Transferaza)
    • SHMT1 (Serine Hidroxi Metil Transferaza)
  5. Neurotransmitatori: DHFR, NOS3, PNMT, DBH, GCH1, TH, DDC, PAH, GAD1, AANAT, COMT, MAOA, TPH
  6. Inflamatie intestinala: FUT2, AGT16L1, NOD2, TYMS, DAO, AGT, CTLA-4
  7. Metabolism histamina: HNMT, DAO, metilare
  8. Ciclul transsulfurarii: CBS, GST, GSR, GSS, SOD, CAT
  9. Mitocondrie si sinteza de energie: MMAB, MUT, AMPD1, GCH1
  10. Metabolism estrogeni: CYP1B1, COMT, MTHFR, GST
  11. Enzime de protectie pentru stresul oxidativ: CAT, PON1, SOD2, SOD3, GST, GSS, GSR, eNOS, GPx
  12. Metabolism vitamina D: VDR TAQ
  13. Enzime de detoxifiere: GST, GSS, GSR, GPx, etc.

B. Teste cu prelevare de sange venos & periferic si urina

1. Parametri verificare metabolism folati

  • hemograma
  • folat seric
  • folat eritrocitar
  • 5MTHF metilfolat in LCR – cod 3025 Synlab, 
  • autoanticorpi anti receptor de folat alfa (FOLR1) FRAT – 
    • anticorpi de tip blocking and binding
    • doar daca folatul eritrocitar este scazut
    • se vor testa ulterior testarii folatilor intracelulari
  • dozare tipuri de folati intracelulari
    • glutation oxidat
    • glutation redus
    • S-Adenozil-Metionina SAM (RBC) intracelular,
    • S-Adenozil Homocisteina SAH (RBC) intracelular,
    • tetrahidrofolat (THF),
    • 5-methl-THF (metilfolat)
    • 10-formil-THF
    • 5-formil-THF (acid folinic)
    • folic acid,
    • adenozina

2. Parametri verificare ciclul metilarii

  • folat eritrocitar
  • vitamina B12 serica totala
  • homocisteina serica
  • zinc (si cupru) seric
  • zinc urinar
  • magneziu
    • magneziu seric
    • magneziu eritrocitar – de preferat
  • amoniac seric – cu aport redus de proteina alimentara cu 24 ore inainte de recoltare
  • acid uric seric si urinar
  • frotiu de sange periferic
  • profil de glutation: total, redus, ratie 
  • parametri directi ai metilarii SAM, SAH, ratie:
    • S-Adenozil-Metionina (SAM),
    • S-Adenozil Homocisteina (SAH), 
    • raport SAM:SAH
  • profil de metilare extins:
    • glutation oxidat
    • glutation redus
    • S-Adenozil-Metionina SAM (RBC) intracelular,
    • S-Adenozil Homocisteina SAH (RBC) intracelular,
    • tetrahidrofolat (THF),
    • 5-methl-THF (metilfolat)
    • 10-formil-THF
    • 5-formil-THF (acid folinic)
    • folic acid,
    • adenozina
    • cistationina
    • cisteina
    • homocisteina 
    • metionina
    • taurina
  • parametri indirecti de metilare:
    • ADMA (Arginina Di Metil Asimetrica)
    • estradiol seric
    • histamina serica, acid metilimidazolacetic urinar
    • creatina serica, guanidin acetat seric, creatinina serica
    • timina serica si uracil seric (sunt incluse in Organic Acid Tests)

Metabolism vitamina B12

    • Hemograma
    • Vitamina B12 totala serica
    • Holotranscobalamina (vitamina B12 activa) serica
    • Acid metilmalonic seric si urinar
    • Anticorpi anti celula parietala gastrica
    • Anticorpi anti factor intrinsec

Aceste teste evident pot fi completate cu alte teste de laborator pentru a avea o imagine clinica cat mai complexa pentru fiecare situatie in parte.

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    Filed Under: Blog, Diagnostic de laborator, MTHFR & metilare, Preconceptie, Sarcina si Alaptare , Tagged With: folati, metilare, metilcobalamina, metilfolat, MTHFR, teste de laborator

    Reader Interactions

    (5) Comments

    1. Elena Mihailescu says

      18 October 2023 at 16:59

      Pare ca testul de la Ancestry nu mai e disponibil pe Amazon
      Se ofera ca alternativa, un test de 95 EUR …marchetat diferit. Cu accentul pe nutritie, sanatatesi si doar secundar ereditate… Inclin sa cred ca acesta e echivalentul

      ADNTRO GENETICS ENTRY KIT-DNA TESTING – Personalised program to improve your well-being. Discover what your genetics says about you using a saliva sampleADNTRO GENETICS ENTRY KIT-DNA TESTING – Personalised program to improve your well-being. Discover what your genetics says about you using a saliva sample

      Reply
      • Iosefina Speers says

        22 October 2023 at 17:55

        Buna ziua,
        Va multumesc pentru comentariu.
        Nu se permit link-urile neautorizate.
        Kitul Ancestry este in continuare disponibil pe Amazon Germania, chiar are acum o reducere de 24%: https://www.amazon.de/-/en/AncestryDNA-Properties-ancestorary-properties-individual/dp/B09TQ17F5Y/?&_encoding=UTF8&tag=nutrigenomi0a-21&linkCode=ur2&linkId=7a9d04e09bdcc7cacebecf15b97ed6af&camp=1638&creative=6742

        Reply
        • Ana says

          2 May 2024 at 00:31

          Bună seara, produsul Ancestry de pe Amazon Germania este indisponibil. Îmi puteți recomanda vă rog o alternativă? Mulțumesc,

          Reply
    2. Sergiu says

      9 May 2024 at 16:30

      Aceste gene sunt analizate si oferite in raportul de la Ancestry DNA? E de ajuns acel test, sau de care anume este nevoie pentru a afla aceste informatii?

      Reply
      • Iosefina Speers says

        16 May 2024 at 19:58

        Buna ziua,

        Multumesc pentru mesaj si imi cer scuze de intarzierea cu care va raspund.
        Va rog sa cititi despre kitul Ancestry si pe pagina dedicata https://tuestidoctorultau.ro/teste-genetice/
        Kitul Ancestry include 700.000 mutatii, inclusiv mutatiile MTHFR. https://www.ancestry.com/cs/dna-help/ethnicity/whitepaper
        In plus fata de testare genetica, daca folositi kitul Ancestry va fi nevoie si de un raport de interpretare.

        Multa sanatate,
        Iosefina Speers

        Reply

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