Zogulitsa

Kuperewera kwa Carbamoyl phosphate synthetase 1 (CPS1) chifukwa cha kusintha kwa CPS1 ndi vuto lachilendo la autosomal-recessive urea lomwe limayambitsa hyperammonemia lomwe lingayambitse imfa kapena kuwonongeka kwakukulu kwa minyewa.CPS1 imathandizira mapangidwe a carbamoyl phosphate kuchokera ku ammonia, bicarbonate ndi mamolekyu awiri a ATP, ndipo amafuna allosteric activator N-acetyl-L-glutamate.Kusintha kwachipatala kumachitika m'chigawo chonse cha CPS1, koma makamaka m'mabanja amodzi, osabwerezanso pang'ono.Tidawonetsa pano kusintha kokhako kodziwika bwino kwa CPS1, p.Val1013del, komwe kumapezeka mwa odwala khumi ndi amodzi osagwirizana nawo ochokera ku Turkey omwe amagwiritsa ntchito mtundu wake wakuthengo kapena CPS1 yosinthika yomwe imawonetsedwa mu baculovirus/tizilombo cell system.Zomwe zimachitika padziko lonse lapansi za CPS1 ndi machitidwe a ATPase ndi ATP omwe amawonetsa, motsatana, masitepe a bicarbonate ndi carbamate phosphorylation, adayesedwa.Tidapeza kuti mtundu wakuthengo wa CPS1 ndi V1013del mutant adawonetsa milingo yofananira ndi kuyera koma CPS1 yosinthika sinawonetse zochitika zina zotsalira.Muchitsanzo cha CPS1 chojambula, V1013 ndi ya β-strand kwambiri ya hydrophobic pakati pa β-sheet yapakati ya A subdomain ya carbamate phosphorylation domain ndipo ili pafupi ndi njira yonenedweratu ya carbamate yomwe imagwirizanitsa malo onse a phosphorylation.Kafukufuku wa Haplotype adawonetsa kuti p.Val1013del ndikusintha koyambitsa.Pomaliza, kusintha kwa p.V1013del kumayambitsa CPS1 koma sikupangitsa kuti puloteniyo ikhale yosakhazikika kapena yosasungunuka.Kubwereranso kwa kusinthaku kwa odwala aku Turkey ndizotheka chifukwa cha zomwe adayambitsa, zomwe zimagwirizana ndi zomwe zimachitika pafupipafupi mwa anthu omwe akhudzidwa.