Kayayyaki

Karancin Carbamoyl phosphate synthetase 1 (CPS1) saboda maye gurbi na CPS1 cuta ce da ba kasafai ake samu ta hanyar sake zagayowar urea ta autosomal-recessive wanda ke haifar da hyperammonemia wanda zai iya haifar da mutuwa ko rashin lafiya mai tsanani.CPS1 yana haifar da samuwar carbamoyl phosphate daga ammonia, bicarbonate da ƙwayoyin ATP guda biyu, kuma yana buƙatar mai kunnawa allosteric N-acetyl-L-glutamate.Maye gurbi na asibiti yana faruwa a duk yankin CPS1 codeing, amma galibi a cikin iyalai guda ɗaya, tare da ɗan sake dawowa.Mun siffata a nan kawai maye gurbi na CPS1 da aka sani a halin yanzu, p.Val1013del, wanda aka samu a cikin marasa lafiya goma sha ɗaya waɗanda ba su da alaƙa na zuriyar Turkiyya ta amfani da nau'in daji mai alamar sa ko mutant CPS1 wanda aka bayyana a cikin baculovirus/tsarin ƙwayoyin kwari.Halin CPS1 na duniya da kuma haɗin ATPase da ATP waɗanda ke yin nuni, bi da bi, bicarbonate da matakan phosphorylation na carbamate, an gwada su.Mun gano cewa nau'in daji na CPS1 da V1013del mutant sun nuna daidaitattun matakan magana da tsabta amma mutant CPS1 bai nuna wani gagarumin ayyukan saura ba.A cikin tsarin tsarin CPS1, V1013 yana cikin madaidaicin hydrophobic β-strand a tsakiyar tsakiyar β-sheet na A Reshen yanki na yankin phosphorylation na carbamate kuma yana kusa da ramin carbamate da aka annabta wanda ya haɗu da wuraren phosphorylation biyu.Nazarin Haplotype ya nuna cewa p.Val1013del maye gurbi ne.A ƙarshe, maye gurbin p.V1013del yana hana CPS1 aiki amma baya sa enzyme ɗin ya zama marar ƙarfi ko rashin narkewa.Maimaituwar wannan maye gurbi na musamman a cikin marasa lafiya na Turkiyya yana yiwuwa ne saboda tasirin da aka kafa, wanda ya yi daidai da yawan haɗin kai da ake gani a cikin mutanen da abin ya shafa.