Nazarin Halitta Domin Cututtuka na Huntington

Huntington ya kamu da kwayar cutar wanda yake da kwayar cutar. Rashin ƙwayar cuta ta jiki, ƙarawa a CAG maimaitawa, ana samuwa akan chromosome 4.

Menene cutar Huntington?

Huntington ta cutar shi ne yanayin rashin lafiya wanda aka nuna ta mummunar cuta da motsi da ci gaba . Huntington cutar ta fara kusan shekaru 40 a kan matsakaita, kuma, ƙananan fiye, fara a lokacin shekaru matasa.

Wadanda ke fama da cututtukan Huntington suna da rai mai rai game da shekaru 10 zuwa 20 bayan bayyanar cututtuka.

Halin yana haifar da rashin lafiya da kuma ƙarfafa dogara ga masu kulawa yayin da yake cigaba. Huntington cutar shine yanayin da ba a san ba, wanda ya shafi kusan 1 daga kowane mutum 10,000 zuwa 20,000 a dukan duniya, tare da karamin haɗari tsakanin mutanen Turai.

Abin baƙin cikin shine, cutar Huntington ba ta da magani , kuma wadanda aka gano da cutar ba su da wani magani sai dai taimakon kulawa, wanda ke mayar da hankali ga rigakafin ciwo da kuma kaucewa rikitarwa, irin su rashin abinci mai gina jiki da cututtuka.

An gano kwayar cutar da cutar Huntington a 1993, kuma an samu gwajin jini don gane ko kana dauke da kwayar halitta.

Sakamakon cutar da rashin kulawa suna daga cikin dalilan da ya sa mutane da suka san cutar cutar Huntington a cikin iyali suna neman gwajin kwayoyin.

Tabbatar da rashin lafiya ta hanyar gwajin kwayoyin iya taimaka wa iyalai su shirya don matsalolin lokaci, kuma zasu iya taimaka wajen yin yanke shawara akan tsarin iyali.

Girma daga cutar Huntington

Ɗaya daga cikin dalilan da gwajin kwayoyin cutar ta Huntington ya kasance da amfani shi ne cewa yanayin yana da rinjaye .

Wannan yana nufin cewa idan mutum ya gaji daya daga cikin kwayar cutar ta Huntington, to wannan mutumin zai iya haifar da cutar.

Harshen Huntington yana samuwa a kan chromosome 4. Dukkan mutane sun sami kofe guda biyu na kowane jinsi; don haka duk mutane suna da nau'i biyu na chromosome 4. Dalilin da wannan cututtuka ke nuna shi ne rinjaye shi ne cewa ciwon guda ɗaya ne kawai wanda zai iya haifar da yanayin, koda kuwa mutum yana da wata al'ada ta al'ada. Idan kana da iyayen da ke da wannan cuta, iyayenka na da chromosome daya tare da lahani da kuma daya daga cikin marasa lafiya ba tare da lahani ba. Kai da 'yan uwanka suna da damar kashi 50 cikin dari na gajiyar cutar daga iyayen da ke ciki.

Genetics na Huntington ta cuta

An tsara jigilar halittar daga jerin kwayoyin nucleic, wadanda suke kwayoyin a kan DNA wanda ke sanyawa ga sunadarin sunadaran da jikinmu ke bukata don aiki na al'ada. Kwayar magance cutar ta Huntington ta kara yawan adadin da aka samu na uku da kwayoyin nucleic, cytosine, adenine da guanine, a cikin yankin na farko daga cikin jigon HD . An bayyana wannan a matsayin maimaita CAG.

Yawanci, ya kamata mu yi kusan 20 CAG maimaita a cikin wannan wuri. Idan kana da ƙasa da maimaita 26, ba za a sa ran ka ci gaba da cutar Huntington ba.

Idan kana da tsakanin 27 da 35 CAG maimaitawa, baza ku iya haifar da yanayin ba, amma kuna cikin haɗarin wucewa cutar zuwa ga 'ya'yanku. Idan kana da tsakanin 36 da 40 maimaitawa, zaka iya inganta yanayin da kanka. Mutanen da ke da kusan 40 CAG maimaita ana sa rai su ci gaba da cutar.

Wani ra'ayi tare da wannan lalacewar kwayar halitta ita ce yawan yawan maimaitawa sau da yawa yana ƙaruwa da kowane ƙarni, abin mamaki wanda aka sani da tsammanin. Don haka, alal misali, idan kana da iyaye wanda ke da CAG 27 a cikin yankin da ke da alhakin cutar Huntington, za ka iya samun ɗan'uwa tare da maimaita 31, kuma danginka na iya samun ɗa wanda yake da karin maimaitawa.

Babban muhimmancin tsammanin kwayoyin cutar Huntington ita ce cewa mutumin da ya fi CAG ya yi mahimmanci zai sa alamun bayyanar cututtuka a baya fiye da mutumin da ya ragu.

Huntington ta cututtukan kwayoyin gwaje-gwaje

Hanyar da za a jarraba cutar Huntington ta hanyar gwajin jini. Daidaita gwajin din sosai. Yawanci, saboda cutar Huntington irin wannan mummunar yanayin, ana bada shawarwari kafin da bayan bayanan gwajin ku.

Akwai wasu dabarun da likitanku zasu iya amfani dashi don fassara sakamakon gwajin ku. Alal misali, idan ka san cewa kana da iyaye tare da cutar Huntington, likitan ka iya jarraba iyayenka kuma ka ga yadda lambar CAG ta maimaita akan kowannensu chromosomes ya kwatanta zuwa yawan maimaita kowannen iyayenku na chromosomes . Yin gwaji ga 'yan uwanku na iya taimakawa wajen sanya sakamakon a hangen zaman gaba.

Yaya HD Gene ke haifar da cutar Huntington

Matsarar kwayar cuta na Huntington, CAG maimaitawa, yana haifar da rashin haɗari a cikin samar da wani sinadaran da ake kira furotin huntingtin. Ba a bayyana cikakkiyar abin da wannan furotin yake yi a mutanen da basu da cutar Huntington. Abin da aka sani shine, a cikin cutar Huntington, furotin huntingtin ya fi na al'ada kuma ya zama mai laushi zuwa rabuwa (watse cikin ƙananan sassa). An yi imani da cewa wannan haɗuwa ko rarrabawar sakamakon zai iya zama mai guba ga ƙwayoyin jiki a kwakwalwa.

Yankin da ke cikin kwakwalwar da cutar Huntington ke fuskanta ita ce basal ganglia, wani yanki a cikin kwakwalwa wanda aka sani da shi ke da alhakin cutar ta Parkinson. Kamar cutar ta Parkinson, cutar Huntington tana fama da matsalolin motsa jiki, amma cutar Huntington tana ci gaba da sauri, yana da mummunan rauni, kuma lalata shi ne abin da ya fi sananniyar cutar.

Kalma Daga

Huntington cutar ne mummunar yanayin da ke shafar mutane a farkon shekarun da ke kaiwa mutuwa cikin shekaru 20. Duk da fahimtar kimiyya game da cutar, akwai rashin lafiya, babu magani wanda zai iya ci gaba da ci gaban cutar kuma babu maganin cutar.

Gwajin gwaji ga cutar Huntington babban ci gaba ne wanda zai taimaka wajen yanke shawara. Sakamakon gwajin kwayoyin zai iya taimakawa tare da tsara iyali, da shirye-shirye don nakasa da mutuwar farko.

Idan kai ko wani wanda ka san yana da cutar Huntington ko kuma an gaya masa cewa cutar za ta fito a cikin shekaru masu zuwa, yana da amfani don haɗawa da ƙungiyoyin tallafi don zama hanyar fahimtar yadda za a jimre kuma ku dogara ga waɗanda ke da irin abubuwan da suka faru.

Bugu da ƙari, yayin da babu magani a wannan lokaci, bincike yana ci gaba, kuma za ku iya la'akari da shiga cikin binciken bincike a matsayin wata hanya ta koyi game da zaɓuɓɓukanka kuma don samun damar yin amfani da zaɓuɓɓuka masu tasowa masu tasowa.

> Sources:

> Bates GP, Dorsey R, Gusella JF. Et al. Huntington cuta. Nat Rev Dis Primers. 2015 Apr 23; 1: 15005. Doi: 10.1038 / nrdp.2015.5.

> Richard H. Myers. Huntington ta cuta Genetics. NeuroRx. 2004 Afr; 1 (2): 255-262. Doi: 10.1602 / neurorx.1.2.255 PMCID: PMC534940 PMID: 15717026