Izingane Progeria: Ingabe unayo izingane ithuba?

Izingane Progeria - isifo uhlamvu zofuzo, okuholela izinguquko ezingenakuhlehliswa kwezitho sangaphakathi sohlelo ngenxa ukuguga ngaphambi kwesikhathi ka wonke umzimba. Ngokokuqala ngqá sifo kutholakele futhi kwakhishwa ezichazwe 1889 nguJohane. Hutchinson futhi ngokuzimela ngo-1904 kaJ Guilford. Naphezu kweqiniso lokuthi izingane progeria - isifo ezingavamile kakhulu, kusukela ukutholakala yayo echazwe amacala angaphezu kuka-150. Futhi ngamunye wabo uzifunde ngokucophelela lenqwaba ososayensi.

omunye izinsana odokotela abayizigidi ezingu-7 kuphela ukuxilonga syndrome ka Hutchinson-Gilford. Izingane Progeria okhula ngokushesha - nje ngonyaka umzimba ubudala lesiguli iminyaka 5-9. Izingane ezimweni ezingajwayelekile elisekhona engu-23 ubudala, ababulawa yilesi sifo ejwayelekile ngaphezulu asebekhulile. Izimpawu zokuqala "zokuguga, zezingane" avele izingane kusukela zisencane (iminyaka 2-3).

Njengoba ukwelashwa okunjalo alikho, ukuthi, imithi aqokwa kuphela ngoba impatho siyefana ohlangothini izifo. Kodwa ososayensi emhlabeni wonke basafunda inkinga futhi ufuna ukuthola izindlela ezisebenzayo zokubhekana sisheshe.

progeria elandelayo kubonakaliswa izingane libhekene sika:

• kwesiqu elincane;
• ukukhanya (13-22 kg);
• isikhumba ayetholakala, lapho imikhumbi ebonakalayo;
• ezihamba kancane emalungeni ezandleni nasezinyaweni;
• big ikhanda, kodwa ngesikhathi esifanayo - umuntu omncane;
• izwi ephezulu bamisa.

Izimbangela zesifo

Bonke ososayensi abavumelana ukuthi izingane progeria akusona isifo, sitholwa njengefa. Izwe eyaziwa kuphela umkhaya owodwa kuphela, lapho zonke izingane 3 ifa syndrome.

Akunjalo kudala kwakucatshangwa ukuthi ukuphela kwesizathu "yobudala zezingane" - lo ngokuguqula izakhi isakhi esisodwa ohilelekile ukwakheka A. amaprotheni lamin Kanti i-nuclei iseli zakhelwe ngesisekelo amaprotheni. Ngo inqubo izinguquko prelamina A ovuthiwe amaprotheni kokuba ukwehluleka. Ngakho, ngenxa lamin A kakhulu iyahluka kwenye iprotheni evamile. Lokhu kuholela ezihlukahlukene izinguquko sokugembula emzimbeni wengane, okuyinto libhekene isifo Hutchinson-Gilford. Izingane Progeria aqale ukuthuthuka okubangela ukuguga ngaphambi kwesikhathi.

Kodwa abanye ososayensi ayezifundile omunye isakhi sofuzo ku-DNA, kuguquka okuyinto nakanjani kuholela sifo. izinqubo engelapheki e BAF-1 isakhi sofuzo -prichina ukuthuthukiswa yokulimala amaseli ulwelwesi. Njengoba BAF-1 futhi baxhumana nezinye amaphrotheni, i-ngokuguqula izakhi zofuzo oyiyo kubangela ukuphazamiseka nezinye amaprotheni.

Ingabe ikhona indlela savela ngengozi?

Kuze kube manje, ososayensi nazo umsebenzi onzima ugcwalise Ucwaningo olunzulu inqubo ye isakhi sofuzo wezakhi. Futhi uma bephumelela, abantwana abagulayo uzothola ithuba wangempela lokuwina izingane progeria, futhi odokotela - ukuvimbela ivela khona.

Kufanele kuqashelwe iziguli ukuthi abaningi abanethemba eyethile insindiso. lososayensi usuqalile zokwelapha anti-lesi sifo. Nokho, kungenzeka ukuthi akuyona yonke ingane abangaphila ngendlela evumelana sikhathi. Kodwa noma kunjalo, uma uvivinyo yimpumelelo futhi izingane progeria linqotshiwe, kuyoba ukunqoba zonke labo abenza konke ukuze asindise izingane zabo kusukela nobulwelwe ezinjalo.