Nā huahana

ʻO ka nele o Carbamoyl phosphate synthetase 1 (CPS1) ma muli o ka hoʻololi ʻana o CPS1 he maʻi puʻupuʻu autosomal-recessive urea cycle ma muli o ka hyperammonemia hiki ke alakaʻi i ka make a i ʻole ka hōʻino ʻana i ka neurological koʻikoʻi.Hoʻopili ka CPS1 i ka hoʻokumu ʻana o ka carbamoyl phosphate mai ka ammonia, bicarbonate a me ʻelua mau mole o ATP, a koi i ka allosteric activator N-acetyl-L-glutamate.Hana ʻia nā hoʻololi ʻokoʻa ma ka māhele coding CPS1 holoʻokoʻa, akā ʻo ka hapa nui i nā ʻohana hoʻokahi, me ka liʻiliʻi o ka hoʻi hou ʻana.Ua hōʻike mākou ma ʻaneʻi i ka hoʻololi hou ʻana o CPS1 i kēia manawa, p.Val1013del, i loaʻa i nā maʻi ʻumikūmākahi pili ʻole o ka lāhui Turkish me ka hoʻohana ʻana i ka recombinant ʻO kāna-tagged ʻāhiu ʻano a i ʻole mutant CPS1 i hōʻike ʻia ma ka baculovirus/insect cell system.ʻO ka hopena CPS1 honua a me ka ATPase a me ka ATP synthesis partial reactions e hōʻike ana, i kēlā me kēia, i ka bicarbonate a me nā ʻanuʻu phosphorylation carbamate.Ua ʻike mākou ua hōʻike ka CPS1 wild type a me V1013del mutant i nā pae hōʻike like a me ka maʻemaʻe akā ʻaʻole i hōʻike ʻia ka CPS1 mutant i nā hana koʻikoʻi.Ma ke kumu hoʻohālike CPS1, aia ʻo V1013 i kahi β-strand hydrophobic nui loa ma ka waena o ka β-pepa waena o ka subdomain A o ka carbamate phosphorylation domain a kokoke i ka pūnana carbamate i wānana ʻia e pili ana i nā pūnaewele phosphorylation ʻelua.Ua ʻōlelo ʻia nā haʻawina Haplotype ʻo p.Val1013del kahi hoʻololi hoʻokumu.I ka hopena, hoʻopau ka mutation p.V1013del i ka CPS1 akā ʻaʻole ia e hoʻolilo i ka enzyme ʻaʻole paʻa a paʻa ʻole.ʻO ka hoʻi hou ʻana o kēia hoʻololi ʻana i nā maʻi Turkish ma muli paha o kahi hopena hoʻokumu, i kūlike me ka consanguinity pinepine i ʻike ʻia i ka heluna kanaka i hoʻopilikia ʻia.