MTHFR Suʻega Suʻega

Anotusi

• Ole a le suʻega ole MTHFR suiga?
• O le a le mea e faʻaaoga ai?
• Aisea ou te manaʻomia ai se suʻega o le MTHFR suiga?
• O le a le mea e tupu i le taimi o le MTHFR suiga suiga?
• Mata e tatau ona ou faia se mea e sauniuni ai mo le suʻega?
• E i ai ni lamatiaga i le suʻega?
• O le a le uiga o faʻaiuga?
• E i ai seisi mea e tatau ona ou iloa e uiga i le MTHFR suiga suiga?
• Faʻamatalaga

Ole a le suʻega ole MTHFR suiga?

Lenei suʻega vaʻai mo mutations (suiga) i se kenera taʻua MTHFR. O kenera o vaega faʻavae ia o lona tupuʻaga na tuʻufaʻatasia mai lou tina ma lou tama.

E tofu uma tagata ma genes MTHFR e lua, tasi le tofi mai lou tina ma le tasi mai lou tama. Mutations mafai ona tupu i le tasi pe lua uma MTHFR genes. E i ai ituaiga eseese o MTHFR suiga. O se suʻega a le MTHFR e suʻesuʻeina mo le lua o nei suiga, e taʻua foi o ituaiga. O MTHFR 'eseʻese e taʻua ole C677T ma le A1298C.

O le MTHFR gene e fesoasoani i lou tino e talepe i lalo se vailaʻau e taʻua o le homocysteine. Homocysteine ​​o se ituaiga o amino acid, o se vailaʻau e faʻaaogaina e lou tino e fai ai polotini. O le mea masani, ole folic acid ma isi B vitamini e gagauina le homocysteine ​​ma suia i isi vailaʻau e manaʻomia e lou tino. E tatau la ona iai laʻititi laʻititi o le homocysteine ​​totoe i le toto.

A iai sau fesuiaʻiga o le MTHFR, e ono le sologa lelei lau genes MTHFR. Lenei ono mafua ai tele homocysteine ​​e fausia i luga o le toto, e mafua ai i eseese faʻafitauli soifua maloloina, aofia ai:

• Homocystinuria, o se faʻaletonu e afaina ai mata, sooga, ma agavaʻa gafatia. E masani ona amata ile amataga ole tamaititi.
• Faateleina lamatiaga o le fatu fatu, stroke, toto maualuga, ma le toto pala

I se faʻaopopoga, fafine ma MTHFR fesuiaʻiga maua se maualuga tulaga lamatia o le i ai o se pepe ma se tasi o le mulimuli mai fananau mai:

• Spina bifida, lauiloa o se neural tube defect. O le tulaga lea e le o tapunia atoa ai ponaivi o le tuasivi faataamilo i le uaula.
• Anencephaly, o le isi ituaiga o neural tube defect. I lenei faʻamaʻi, o vaega o le faiʻai ma / poʻo le ulupoo atonu e leiloa pe faʻaletonu.

Oe mafai ona faʻaititia lou homocysteine ​​tulaga i le aveina o le folic acid poʻo isi B vitamini E mafai ona avea o ni faʻaopopoga pe faʻaopopo e ala i suiga o meaʻai. A faʻapea e te manaʻo e inu le folic acid poʻo isi B vitamini, o le a fautuaina e lau tausi soifua maloloina le filifiliga e sili ona lelei mo oe.

Isi igoa: plasma aofaʻi homocysteine, methylenetetrahydrofolate toefaʻamamaina DNA mutation iloiloga

O le a le mea e faʻaaoga ai?

O lenei suʻega e faʻaaogaina e suʻe ai pe i ai sau suiga tasi o le MTHFR e lua: C677T ma le A1298C. E masani ona faʻaaogaina pe a maeʻa isi suʻesuʻega faʻaalia ai e sili atu lou maualuga nai lo le masani ai i le toto i le tulaga ole homocysteine. Tulaga e pei o maualuga kolesterol, thyroid faamaʻi, ma le le lelei meaʻai e mafai foi ona siitia maualuga homocysteine ​​tulaga. O le MTHFR suʻega o le a faʻamaonia pe o le siʻitia tulaga e mafua mai i se genetation suiga.

E ui lava o le suiga o le MTHFR e aumaia ai le maualuga o le aʻafiaga o le fanau mai, o le suʻega e le masani ona fautuaina mo tina maʻitaga. Avea folic acid faʻaopoopoga i le taimi o maitaga mafai tele faʻaititia le lamatiaga o neural faagaau fanau faaletonu. Ma o le tele o fafine maʻitaga e fautuaina e ave le folic acid, pe o iai pe leai foi se faʻafesuiaʻiga MTHFR.

Aisea ou te manaʻomia ai se suʻega o le MTHFR suiga?

Atonu e te manaʻomia lenei suʻega pe a fai:

• Sa iai sau suʻega ile toto na faʻaalia ai le maualuga atu nai lo le tulaga masani o le homocysteine
• O se vavalalata aiga na maua i le MTHFR suiga
• Oe ma / poʻo tagata vavalalata aiga o loʻo i ai se tala faʻasolopito o le vave maua i le fatu poʻo le toto toto faʻafitauli

E ono maua foʻi e lau pepe fou le suʻega ole MTHFR ose vaega masani o le siakiina o pepe. O le siakiina o le pepe faatoa fananau mai ose suʻega faigofie lea ile siakiina o ituaiga o faʻamaʻi tuga.

O le a le mea e tupu i le taimi o le MTHFR suiga suiga?

O le polofesa mo le soifua maloloina o le a ave se toto faʻataʻitaʻiga mai se uaua i lou lima, faʻaaoga ai se tamaʻi nila. A maeʻa ona tuʻu i totonu le nila, o le a faʻaputuputuina se vaega laʻititi o le toto i totonu o se faʻamaoniga poʻo se ipu. Atonu e te lagonaina sina tiga pe a alu le nila i totonu pe fafo. Lenei masani ona alu ifo i lalo o le lima minute.

Mo se suʻesuʻega faatoa fanau mai, o le a faʻamamaina le mulivae o lau pepe i le ava malosi ma tui le mulivae ma se nila laitiiti. O le a ia aoina ni nai mataua o le toto ma tuu se fusi i luga o le 'upega tafaʻilagi.

O suʻega e masani ona faia pe a fai o le pepe e 1 i le 2 aso le matua, e masani ona i le falemaʻi na fanau ai o ia. Afai e le i fanau lau pepe i le falemaʻi pe afai na e alu ese mai le falemaʻi ae le i faʻataʻitaʻia le pepe, talanoa i lau fomaʻi e uiga i le faʻavasegaina o taimi o suʻega.

Mata e tatau ona ou faia se mea e sauniuni ai mo le suʻega?

E te le manaʻomia ni sauniuniga faʻapitoa mo se suʻega o suiga i le MTHFR.

E i ai ni lamatiaga i le suʻega?

E laʻititi lava se faʻafitauli mo oe poʻo lau pepe i le faʻataʻitaʻiga ole MTHFR. E i ai sina tiga poʻo se tiga i le mea na tuu ai le nila, ae o le tele o faʻailoga e vave ona alu ese.

Atonu e lagona e lau pepe sina tamaʻi tipi pe a tui le mulivae, ma ono paʻu le maʻamaʻi i le nofoaga. Lenei e tatau ona vave alu ese.

O le a le uiga o faʻaiuga?

O au iʻuga o le a faʻaalia pe oe lelei pe leaga mo se suiga ile MTHFR. Afai e lelei, o le taunuʻuga o le a faʻaalia ai o le lua suiga na ia te oe, ma pe o ia te oe se tasi pe lua kopi o le fesuiaʻi gafa. Afai o au faʻaiuga e le lelei, ae o loʻo maualuga oe i le maualuga o le homocysteine, e ono poloaʻia e lau tausi soifua maloloina nisi suʻesuʻega e saili ai le mafuaʻaga.

Tusa lava poʻo le a le mafuaʻaga mo le maualuga homocysteine ​​maualuga, lau fomaʻi soifua maloloina ono fautuaina le aveina o le folic acid ma / poʻo isi vitamini B faʻaopoopoga, ma / pe suia lau taumafataga. B vitamini e mafai ona fesoasoani e aumaia lou homocysteine ​​maualuga toe i le masani.

A iai ni au fesili e uiga i au iʻuga, talanoa i lau fomaʻi.

Aʻoaʻo atili e uiga i suʻesuʻega falesuesue, vaitau o faʻasino, ma malamalamaaga i iʻuga

E i ai seisi mea e tatau ona ou iloa e uiga i le MTHFR suiga suiga?

O nisi tausi soifua maloloina filifili e naʻo suʻega mo homocysteine ​​tulaga, nai lo le faia o le MTHFR gene suʻega. E mafua ona o togafitiga e masani ona tutusa, pe o le maualuga o le homocysteine ​​maualuga e mafua mai i le fesuiaiga.

Faʻamatalaga

1. Cleveland Clinic [Initaneti]. Cleveland (OH): Cleveland Clinic; c2018. O se Kenetic Test E te Le Manaʻomia; 2013 Sep 27 [taʻua 2018 Aug 18]; [tusa o le 4 pupuni] Avanoa mai: https://health.clevelandclinic.org/a-genetic-test-you-dont-need
2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Suʻesuʻe fou mo le homocystinurias ma faʻafitauli o le methylation: iloiloga faʻasolosolo ma faʻatonuga fuafuaina. J Inherit Metab Dis [Initaneti]. 2015 Nov [taʻua 2018 Aug 18]; 38 (6): 1007–1019. Avanoa mai: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
3. Tamaiti Soifua Maloloina mai Nemours [Initaneti]. Le Nemours Foundation; c1995–2018. Suʻega ole Suʻesuʻega ole Fanau Fanau; [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://kidshealth.org/en/mother/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
4. Lab Tofotofoga lugalaina [Initaneti]. Washington D.C .: American Association mo Vailaʻau Togafitiga; c2001–2018. Homocysteine; [faafou 2018 Mar 15; taʻua 2018 Aug 18]; [pe a ma le 2 pupuni] Avanoa mai: https://labtestsonline.org/tests/homocysteine
5. Lab Tofotofoga lugalaina [Initaneti]. Uosigitone D.C. American Association mo vailaʻau Togafitiga; c2001–2018. MTHFR Suiga; [faafou 2017 Nov 5; taʻua 2018 Aug 18]; [pe a ma le 2 pupuni] Avanoa mai: https://labtestsonline.org/tests/mthfr-mutation
6. Mati o Taimi [Initaneti]. White Plains (NY): Mati o Taimi; c2018. Suʻega ole Suʻesuʻega ole Fanau Mai Mo Lau Pepe; [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
7. Mayo Clinic: Mayo Medical Laboratories [Initaneti]. Mayo Faʻavae mo Aʻoga Faʻafomaʻi ma Suesuega; c1995–2018. ID faʻataʻitaʻi: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood: Clinical and Interpretive; [taʻua 2018 Aug 18]; [tusa o le 4 pupuni] Avanoa mai: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
8. Merck Manual Consumer Version [Initaneti]. Kenilworth (NJ): Merck & Co. Inc. c2018. Homocystinuria; [taʻua 2018 Aug 18]; [pe a ma le 2 pupuni] Avanoa mai: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorder/homocystinuria
9. National Cancer Institute [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; NCI Lomifefiloi o Kanesa Aiaiga: gafa; [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
10. Nofoaga Tutotonu a le Atunuʻu mo Faʻalauteleina Faʻasaienisi Faʻaliliuga: Genetic and Rare Diseases Information Center [Initaneti]. Gaithersburg (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; Homocystinuria ona o le MTHFR le lava; [taʻua 2018 Aug 18]; [pe a ma le 2 pupuni] Avanoa mai: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
11. Nofoaga Tutotonu a le Atunuʻu mo le Faʻalauteleina o Faʻamatalaga Faʻasaienisi: Genetic and Rare Diseases Information Center [Initaneti]. Gaithersburg (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; MTHFR gafa eseʻese; [taʻua 2018 Aug 18]; [pe a ma le 2 pupuni] Avanoa mai: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
12. NIH U.S. National Library of Medicine: Genetics Home Reference [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; MTHFR gafa; 2018 Aug 14 [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://ghr.nlm.nih.gov/gene/MTHFR
13. NIH U.S. National Library of Medicine: Genetics Home Reference [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; O le a le suiga o le kenera ma faʻafefea ona suia suiga?; 2018 Aug 14 [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://ghr.nlm.nih.gov/primer/mutationsanddisorder/genemutation
14. National Heart, Lung, and Blood Institute [Initaneti]. Bethesda (MD): U.S. Matagaluega o le Soifua Maloloina ma Tagata Auaunaga; Tofotofoga Toto; [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.nhlbi.nih.gov/health-topics/blood-tests
15. Quest Diagnostics [Initaneti]. Quest Diagnostics; c2000–2017. Nofoaga Suʻega: Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis; [taʻua 2018 Aug 18]; [pe tusa ma le 3 pupuni] Avanoa mai: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17911&searchString=MTHFR
16. Varga EA, Sturm AC, Misita CP, ma Moll S. Homocysteine ​​ma MTHFR Mutations: Fesootaiga i le Thrombosis ma le Coronary Artery Disease. Faʻasalalau [Initaneti]. 2005 Me 17 [taʻua 2018 Aug 18]; 111 (19): e289–93. Avanoa mai: https://www.ahajournals.org/doi/full/10.1161/01.CI

O faʻamatalaga i luga o lenei 'upega tafaʻilagi e le tatau ona faʻaaogaina e fai ma sui o fomaʻi faʻapitoa togafitiga poʻo fautuaga. Faʻafesoʻotaʻi le au tausi soifua pe a iai ni au fesili e uiga i lou soifua maloloina.