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Home › Blog

Cuprul in sinteza de neurotransmitatori, ATP, protectia antioxidativa, fertilitate si metilare

Posted 14 July 2024
Last updated 20 March 2025

Introducere Cuprul este un micronutrient esential pentru existenta tuturor organismelor (bacterii, plante, animale), avand rol de cofactor pentru multiple enzime. Astfel, are un rol esential la nivel mitocondrial in sistemul de transport de electroni si sinteza de energie celulara (ATP) fiind esential pentru respiratia celulara a tuturor celulelor eukariote. Se gaseste in enzimele cu rol…

Read more about Cuprul in sinteza de neurotransmitatori, ATP, protectia antioxidativa, fertilitate si metilare

Filed Under: Blog, Diagnostic de laborator, MTHFR & metilare, Neurotransmitatori, Preconceptie, Sarcina si Alaptare , Tagged With: anxietate, BH4, ceruloplasmina, cupru, dbh, fier, histamina, metilare, neurotransmitatori, SOD, tirozina

Evaluare globala a mutatiilor genetice implicate in deficitul de metilare

Posted 23 January 2024
Last updated 20 March 2025

In acest articol detaliez importanta cunoasterii GLOBALE a mutatiilor SNP pentru toate genele ce codifica enzimele din ciclul metilarii, folatilor, vitaminei B12 pentru o evaluare cat mai completa a statusului metilarii si respectiv a deficitului de metilare indus de aceste mutatii. Uzual se testeaza mutatia MTHFR cu cele 2 SNP-uri (677 si 1298) insa pentru…

Read more about Evaluare globala a mutatiilor genetice implicate in deficitul de metilare

Filed Under: Blog, Diagnostic de laborator, MTHFR & metilare, Mutatii genetice , Tagged With: C667T, diagnostic, metilcobalamina, metilfolat, MTHFR

Deficitul cerebral de folat

Posted 15 October 2023
Last updated 18 July 2024

deficitul cerebral de folat

Deficitul cerebral de folat Disclaimer: Acest articol este un articol extrem de tehnic, cu detalierea reactiilor enzimatice si a cailor metabolice ce apartin metabolismului folatilor. Introducere Deficitul cerebral de folat (Cerebral Folate Deficiency CFD) este un sindrom neurologic ce include orice tulburare neuropsihiatrica sau tulburare de dezvoltare asociate cu un nivel scazut de metilfolat (5 MTHF)…

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Filed Under: Blog, Defecte de tub neural, Diagnostic de laborator, Genetics, Mutatii genetice, Neurotransmitatori, Nutrigenomica , Tagged With: acid folic, acid folinic, autism, epigenetic, metilare, NTD, sarcina

Panel complet teste metabolism folati si metilare

Posted 10 August 2023
Last updated 17 July 2024

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: Ciclul folatilor:…

Read more about Panel complet teste metabolism folati si metilare

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

Mutatiile SOD

Posted 28 June 2021
Last updated 17 July 2024

  Asa cum am promis in articolul MTHFR 677 si de ce e bine sa iti cunosti mutatiile genetice, voi continua detalierea mutatiilor genetice mai frecvent folosite in rapoartele de interpretare ale kiturilor de testare pentru mutatii de tip SNP. In acest articol voi discuta despre mutatiile SOD: SOD1, SOD2, SOD3. Pentru gena SOD sunt recunoscute…

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Filed Under: Blog, Diagnostic de laborator, Mutatii genetice, Neurotransmitatori, Nutrigenomica , Tagged With: anti-aging, BH4, cancer, capacitatea antioxidativa totala, CBD, CoQ10, GLUTATION, Olife, OLIVUM, ROS, SOD, SOD1, SOD2, SOD3, stres oxidativ

Metilarea si BH4 in sinteza de neurotransmitatori si NO

Posted 17 May 2021
Last updated 17 July 2024

Metilarea si BH4 in sinteza de neurotransmitatori si NO Tetrahidrobiopterina sau THB, BH4 este un agent reducator foarte potent, fiind folosit ca si cofactor de catre enzimele de tip hidroxilaza aromatice, cu rol in sinteza de neurotransmitatori si a oxidului nitric (NO). Este folosit in clinica pentru a trata formele de fenilcetonurie (PKU) ce pot fi…

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Filed Under: Blog, Mutatii genetice, Neurotransmitatori, Nutrigenomica , Tagged With: amoniac, BH4, citrulina, fenilalanina, homocisteina, metilare, metilfolat, MTHFR, NOS, oxid nitric, serotonina, tirozina

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Sunt Dr. Iosefina Speers, medic specialist medicina de laborator si tehnician nutritionist si scriu pe acest blog despre mutatiile genei MTHFR si metilare.
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Articole

  • Despre MTHFR, functii & mutatii 40k views | posted on April 19, 2015

  • MTHFR 677 Mutatia MTHFR 677 25.2k views | posted on August 21, 2015

  • MTHFR 1298 Mutatia MTHFR de tip A1298C 17.9k views | posted on August 20, 2016

  • homocisteina Homocisteina 13.9k views | posted on January 12, 2017

  • metilfolat Acid folic sau metilfolat? 13.3k views | posted on August 2, 2016

  • Mutatiile MTHFR, Sarcina, Suplimentele si Stilul de viata Mutatiile MTHFR, sarcina, suplimentele si stilul de viata 12.7k views | posted on May 6, 2017

  • Trombofilie Ereditara Trombofilie ereditara 12k views | posted on July 13, 2016

  • Ulei de peste arctic Eqology 8.3k views | posted on July 15, 2017

  • diagnostic genetic Diagnostic genetic 6.3k views | posted on February 12, 2015

  • acid folinic Acidul folinic, folat bio-identic ce sustine diviziunea celulara 5.2k views | posted on September 28, 2018

  • expresia genetica Expresia genetica pentru MTHFR si PAI-1 4.8k views | posted on March 8, 2018

  • mutatiile comt Mutatiile COMT 3.8k views | posted on October 29, 2016

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