IProgeria yisifo sofuzo esingajwayelekile esivezwa ukuguga kwengane isencane.

IProgeria, eyaziwa nangokuthi yiHutchinson-Gilford syndrome, iyisifo esingajwayelekile sezakhi zofuzo. Kubonakala ngokuguga okwandayo komzimba. Izingane ezinalesi sifo zibonisa izimpawu zokuqala zokuguga.

Lapho izalwa, ingane ayivezi noma ikuphi ukungajwayelekile. Kubonakala "kujwayelekile" kuze kube yinsana. Kancane kancane, i-morphology yakhe nomzimba wakhe kukhula ngokungajwayelekile: ukhula masinyane kunokujwayelekile futhi angatholi isisindo sengane yobudala bakhe. Ebusweni, intuthuko nayo ibambezelekile. Uveza amehlo avelele (ngokukhululeka, athuthuke kakhulu), ikhala elincanyana kakhulu neligxishwe, izindebe ezondile, isilevu esincane nezindlebe eziphumayo. IProgeria futhi iyimbangela yokulahleka kwezinwele okuphawulekayo (i-alopecia), isikhumba esikhulile, ukushiyeka ngokuhlanganyela, noma ngisho nokulahleka kwamafutha angaphansi kwesikhumba (amafutha angaphansi).

Ukukhula kwengqondo nokuqonda kwengane ngokuvamile akuthinteki. Ngokuyinhloko ukuntuleka nemiphumela ekukhuleni kwezimoto, okudala ubunzima bokuhlala, ukuma noma ngisho nokuhamba.

Iziguli ezine-Hutchinson-Gilford syndrome nazo zinciphisa imithambo ethile, okuholela ekwakhekeni kwe-atherosclerosis (ukuvinjelwa kwemithambo). Kodwa-ke, i-arteriosclerosis iyinto ebaluleke kakhulu engcupheni yokuhlaselwa yisifo senhliziyo, noma i-Cerebral Vascular Accident (stroke).

Ukusabalala kwalesi sifo (inani labantu abathintekile phakathi kwenani labantu) kufinyelela kuzigidi eziyizigidi ezine nezine ezisanda kuzalwa emhlabeni wonke. Ngakho-ke kuyisifo esingajwayelekile.

Njengoba i-progeria yisifo esizuzwe njengefa se-autosomal, abantu abasengozini enkulu yokuthola isifo esinjalo yilabo abazali babo abane-progeria. Ingozi yokuguqulwa okungahleliwe kwezakhi zofuzo nayo ingenzeka. IProgeria lapho ingathinta noma yimuphi umuntu, noma ngabe lesi sifo asikho embuthanweni womndeni.

IProgeria yisifo esingajwayelekile nesofuzo. Umsuka walesi sifo ubangelwa ukuguqulwa ngaphakathi kohlobo lwe-LMNA. Lesi sakhi sinesibopho sokwakhiwa kweprotheni: I-Lamine A. Lesi sakamuva sidlala indima ebalulekile ekwakhekeni kwe-cell cell. Kuyinto ebalulekile ekwakheni imvilophu yenuzi (ulwelwesi oluzungeze i-nucleus yamaseli).

Ukuguquka kwezakhi zofuzo kulesakhi sofuzo kuholela ekwakhekeni okungajwayelekile kweLamine A. Le phrotheni eyakhiwe ngokungajwayelekile isemvelaphi yokungazinzi kwe-nucleus yeseli, kanye nokufa kokuqala kwamaseli omzimba.

Ososayensi njengamanje bayazibuza ngale ndaba, ukuze bathole imininingwane ethe xaxa ngokubandakanyeka kwaleli protein ekuthuthukiseni umzimba womuntu.

Ukudluliswa kofuzo kwe-Hutchinson-Gilford syndrome kwenzeka ngefa elikhulu le-autosomal. Kuphakathi kokuthi ukudluliswa kwekhophi elilodwa kuphela kwamabili ohlobo oluthile (kungaba luvela kumama noma kuyise) kwanele ukuthi lesi sifo sikhule enganeni.

Ngaphezu kwalokho, ukuguqulwa okungahleliwe (okungabangelwa ukuhanjiswa kwezakhi zofuzo zabazali) zofuzo lwe-LMNA nakho kungaba semvelaphi kwalesi sifo.

Izimpawu ezijwayelekile zeprogeria zibonakala ngalokhu:

• ukuguga kokuqala komzimba (kusukela ebuntwaneni);
• ukuzuza kancane kwesisindo kunokujwayelekile;
• usayizi omncane wengane;
• ukungahleleki kobuso: ikhala elincanyana, eligxiliwe, amehlo avelele, isilevu esincane, izindlebe ezivelayo, njll.
• ukubambezeleka kwezimoto, kubangele ubunzima bokuma, ukuhlala noma ngisho nokuhamba;
• ukuncipha kwemithambo yegazi, okuyisici esikhulu sengozi ye-arteriosclerosis.

Njengoba i-progeria isifo esingajwayelekile, esinofuzo futhi esizuzwe njengefa, ukutholakala kwalesi sifo komunye wabazali ababili yiyona nto ebaluleke kakhulu engcupheni.

Izimpawu ezihambisana ne-progeria ziyaqhubeka futhi zingaholela ekufeni kwesiguli.

Alikho ikhambi lalesi sifo elikhona njengamanje. Ukuphathwa kokuphela kweprogeria yilokho kwezimpawu.

Ucwaningo lube selusobala, ukuze kutholakale ukwelashwa okuvumela ukwelashwa kwalesi sifo.