Okwenza Abanye Ososayensi Bakungabaza Iqembu Elikhona
Ukugxila okubhekisiwe kuye kwafakwa into ebizwa ngokuthi i-MTHFR ukuguqulwa kwezakhi zofuzo kanye nezinhlangano zayo ezinezimo zempilo ezingavamile, ezinye zazo ezisekelwa ngokuqinile futhi ezinye zazo zicatshangelwa kahle.
Eminyakeni yamuva, ososayensi abambalwa baye basikisela ukuthi ukuguqulwa komzimba kungachaza kahle ukuthi kungani abesifazane abathile benesisu esiphuthumayo .
Ngenkathi le mbono ingakapheli, iveza ukuthi i-genetics ingadlala kanjani emasothridi angacacisiwe, uma iyingxenye kuphela.
Ukuchaza ukuguqulwa kwe-MTHFR
Ukuguqulwa kwe-MTHFR kuyinkinga emakhodini omuntu womzimba okuphazamisa ikhono lomzimba lokukhiqiza nge-enzyme ye-MTHFR. I-enzyme ye-MTHFR, futhi, yikhemikhali eyenziwa ngumzimba ukuze ihlanganise folic acid (vitamin B9) .
Ukuntuleka kwe-enzyme kungabangela izinkinga eziningi. Okubi kakhulu kunzima ukuvela kubantu abazuze i-MTHFR ukuguqulwa kokuvela kubazali bobabili (isici esibizwa ngokuthi i-homozygosity), kuyilapho labo abathola ifa elilodwa (i-heterozygosity) bangase babe nezinkinga ezimbalwa, noma zikhona, eziphawulekayo. Ukushintsha kwe-MTHFR akusho ukuthi uzothola ukugula okuthile; kumane kwandisa ingozi yakho jikelele.
Ezinye zezinkinga zezempilo ezivame ukuxhunyaniswa nezinguquko ze-MTHFR zifaka:
- I-Homocystinuria, isifo lapho umzimba ungakwazi khona ukucubungula i-homocysteine, evame ukuholela ezinkingeni zamehlo, ukuvinjwa kwegazi okungavamile, ukungavamile kwegazi, nezinkinga zokucabanga
- I-Anencephaly , isici sokuzalwa esichazwa izingxenye ezingekho noma ezingenakunyaka ngokuphelele zobuchopho noma i-skull
- I-Spina bifida, ukwakheka okungaphelele kwethambo emkhaleni womgogodla
- Ukulahlekelwa kwezwa okuhlobene nokuguga
Ezinye izifundo ziye zaxhuma ukuguqulwa kwe-MTHFR kwisifo senhliziyo, isifo sohlangothi, isifo somfutho wegazi ophakeme, i- preeclampsia (ukucindezeleka kwegazi ngesikhathi sokukhulelwa), i-glaucoma, izifo zengqondo, nezinhlobo ezithile zomdlavuza. Iningi lalezi zifundo liye lahlanganiswa kakhulu. kanye nezinhlangano ezitholakala kwezinye kodwa hhayi kwabanye.
Konke okushiwo, i-MTHFR ukuguqulwa kwezakhi zofuzo zivame kakhulu, cishe cishe ingxenye yesigamu se-US kungenzeka ukuthi okungenani i-heterozygous yokuguqulwa komzimba.
I-MTHFR kanye neNhlekelele yokuThathaniswa
Ngenxa yokuthi ubufakazi obukhona manje busekelwa ngokukhululekile, kunabosayensi abaningi abaphikisana nomqondo wokuthi ukuhlukumeza kanye nokuguqulwa kwe-MTHFR kuhlanganiswe ngandlela-thile. Labo abeseka ukucabanga ngaleyo ndlela basuselwe ekukhuleni kokukhulelwa kwesisu phakathi kwabesifazane abanokuhluka okuhlukile okuthiwa yi-MTHFR C677T.
Isihluthulelo sokuphikisana yiyona indima i- homocysteine ekholelwa ukuthi idlala. I-homocysteine i-amino acid eyenziwa ngumzimba ewusizo ekusetshenzisweni kwamathamini e-B. Ngaphambi kokuguqulwa kwe-C677T, i-homocysteine ayikwazi ukuvuselelwa kabusha futhi iqala ukubuthelwa egazini. Uma lokhu kwenzeka, kungaholela esimweni sokuvuvukala okuthiwa i-homocysteinemia esaziwayo engozini ye-coronary artery disease.
Labo abasekela le mbono baye basikisela ukuthi i-homocysteinemia ingabangela ukwakheka kwezingxenyana ezincane zegazi ezivimbela ukugeleza komsoco kuya e-placenta, ngokuyinhloko kulambile ingane futhi kudala ukukhipha isisu okuzenzekelayo . Yimbono ephikisana kakhulu futhi enye engekho ngempela ubufakazi obunzima.
Njengoba sekushiwo, abesifazane abaningi abanesisu sokuphindaphinda njalo bazohlola ukuthi kukhona ukushintsha kwe-MTHFR. Ngenxa yalokho, odokotela abathile baye basekela ukusetshenziswa kwezidakamizwa zokuvimbela izidakamizwa ezifana ne- heparin kanye ne -aspirin ephansi ephansi ukunciphisa ingozi yezindwangu zegazi. Abanye batusa ukuphakama okukhulu kwe-folic acid namanye amavithamini B, ekholelwa ukuthi lokho kunganikeza i-homocysteine inhloso kanye nomzila okufanele uqedwe kuwo.
Nakuba kungekho bufakazi bokuthi noma yiyiphi yalezi zinyathelo kuzonciphisa ingozi yokukhulelwa kwesisu, kukhona nobufakazi obuncane bokuphakamisa ukuthi kuzokwenza noma yimuphi umonakalo.
Izwi elivela ku-Verywell
Ukuphikisana kuyaqhubeka nokuthukuthela mayelana nomthelela wokuguqulwa kwe-MTHFR ekukhulelweni, iseluleko se-2013 esikoleni sase-American College of Obstetricians kanye neGynecologist sathi ubufakazi obukhona ngokuphathelene nalolu daba "bukhawulelwe" noma "abuhambisani" futhi bulekwa ukulwa nokusebenzisa i-MTHFR genetic ukuhlaziywa noma ukuzilayeza ukuhlolwa kwe-homocysteine njengengxenye yokuhlolwa kokuqala kokubeletha .
> Imithombo:
> I-American College yezidakamizwa namaGynecologists. "I-ACOG Practice Bulletin No. 138: I-thrombophili engabelwe ngokukhulelwa." I-Obstet Gynecol. 2013; 122 (3): 706-17. I-DOI: 10.1097 / 01.AOG.0000433981.36184.4e.
> Chen, M .; I-Yang, i-X; noLu, M. "I-Methylenetetrahydrofolate ivuselela ama-polymorphisms yesigqi kanye nokulahlekelwa okukhulelwa njalo eChina: ukubuyekezwa okuhlelekile nokuhlaziywa kwemeta." I-Arch Gynecol Obstet . 2016 Feb; 293 (2): 283-90. I-DOI: 10.1007 / s00404-015-3894-8.