Ibicuruzwa

Carbamoyl phosphate synthetase 1 (CPS1) ibura kubera ihinduka rya CPS1 ni indwara idasanzwe ya autosomal-recessive urea cycle itera hyperammonemia ishobora gutera urupfu cyangwa ubumuga bukomeye bw'imitsi.CPS1 itera karbamoyl fosifate ikomoka kuri ammonia, bicarbonate na molekile ebyiri za ATP, kandi bisaba ko ukora allosteric N-acetyl-L-glutamate.Imihindagurikire y’amavuriro iboneka mu karere kose kode ya CPS1, ariko cyane cyane mumiryango imwe, ntigisubireho.Twaranze hano ihinduka ryonyine rizwi cyane rya CPS1 ihinduka, p.Val1013del, dusanga mu barwayi cumi na rimwe badafitanye isano bakomoka mu gihugu cya Turukiya bakoresheje recombinant Ubwoko bwe bwo mu gasozi cyangwa mutant CPS1 bugaragara muri sisitemu ya baculovirus / udukoko.Isi yose ya CPS1 reaction hamwe na ATPase na ATP synthesis igice cyibice byerekana, kimwe, bicarbonate hamwe nintambwe ya fosifora ya karbamate, barabajijwe.Twasanze ubwoko bwa CPS1 bwishyamba hamwe na V1013del mutant byagaragaje urwego rwerekana imvugo nubuziranenge ariko mutant CPS1 ntagaragaza ibikorwa byingenzi bisigaye.Muri moderi yuburyo bwa CPS1, V1013 ni iy'amazi menshi ya hydrophobi β -kuri hagati rwagati rwagati rwagati rwa A subdomain ya karbamate ya fosifora kandi yegereye umuyoboro wa karbamate wahanuwe uhuza ibibanza byombi bya fosifora.Ubushakashatsi bwa Haplotype bwagaragaje ko p.Val1013del ari mutation washinze.Mu gusoza, mutation p.V1013del idakora CPS1 ariko ntabwo itanga enzyme idahindagurika cyane cyangwa idashonga.Kuba iyi ihinduka ry’imiterere yihariye ku barwayi ba Turukiya birashoboka ko biterwa n’umushinga washinze, ibyo bikaba bihuza n’ubwumvikane bukunze kugaragara mu baturage bahuye nacyo.