Ibicuruzwa

Imihindagurikire ibiri muri gene ya cystathionine beta-synthase (CBS) yabonetse mu bavandimwe babiri b'Abayapani bafite pyridoxine idakira homocystinuria yari ifite urugero rwa methionine mu maraso yabo mu gihe cyo kuvuka.Abarwayi bombi bari heterozygote ya mutant alleles ebyiri: umwe yagize A-to-G kuri nucleotide 194 (A194 G) yateje insimburangingo ya histidine-kuri-arginine kumwanya wa 65 wa poroteyine (H65R), mugihe undi yari afite G-to-A inzibacyuho kuri nucleotide 346 (G346A) byaviriyemo gusimbuza glycine-kuri-arginine kumwanya wa 116 wa poroteyine (G116R).Poroteyine ebyiri za mutant zagaragajwe ukundi muri Escherichia coli, kandi ntizari zifite ibikorwa bya catalitiki.Nubwo genotypes zabo zisa kandi zifata proteine ​​zingana, abo bavukana berekanye urugero rutandukanye rwa methionine yamaraso mugihe cya neonatal, byerekana ko urwego rwa methionine mumaraso rutagenwa gusa nubusembwa buri muri gene ya CBS no gufata proteine, ibikorwa by'indi misemburo igira uruhare muri methionine na homocysteine ​​metabolism, cyane cyane mugihe cyo kuvuka.Kubwibyo, impinja zifite ibyago byinshi zifite barumuna babo hamwe na homocystinuria, kabone niyo urugero rwa methionine mumaraso yabo rusanzwe mugupima imbaga ya neonatal, bigomba gukurikiranwa no gusuzumwa nubushakashatsi bwibikorwa bya enzyme cyangwa isesengura rya gene kugirango ubuvuzi bushoboke yatangiye vuba bishoboka kugirango ikumire iterambere ryibimenyetso byamavuriro.Byongeye kandi, uburyo bushya, bworoshye bwo gusuzuma imbaga ya CBS muri neonates bugomba gutezwa imbere.