中华实验眼科杂志
中華實驗眼科雜誌
중화실험안과잡지
CHINESE JOURNAL OF EXPERIMENTAL OPHTHALMOLOGY
2014年
8期
756-759
,共4页
结晶样视网膜变性%细胞色素P450酶系/基因学%DNA突变%脂质代谢%遗传性视网膜疾病
結晶樣視網膜變性%細胞色素P450酶繫/基因學%DNA突變%脂質代謝%遺傳性視網膜疾病
결정양시망막변성%세포색소P450매계/기인학%DNA돌변%지질대사%유전성시망막질병
Bietti crystalline corneoretinal dystrophy%Cytochrome P450 enzyme system/genetics%DNA mutation%Lipid metabolism%Retinal diseases/genetics
结晶样视网膜变性(BCD)是一种常染色体隐性遗传的视网膜退行性疾病,其致病基因为CYP4V2,常见的突变位点是c.802-8_810del17insGC(Exon7del)、c.992A＞C(p.H331P)和c.1091-2A＞G(Exon 9del),基因突变形式多样.CYP4V2基因属于细胞色素氧化酶P450家族,编码蛋白CYP4V2,主要发挥脂肪酸的ω-氢基化作用.CYP4V2是眼部最主要的发挥多不饱合脂肪酸催化作用的细胞色素氧化酶,其内源性的底物是ω-3族多不饱合脂肪酸,在眼部主要为二十二碳六烯酸(DHA).了解和研究CYP4 V2基因突变导致BCD的发病机制在该病的基因诊断和治疗研究中具有重要意义.就BCD的分子病因学、CYP4V2酶的生化特性和CYP4V2基因突变导致BCD发病机制的研究进展进行综述.
結晶樣視網膜變性(BCD)是一種常染色體隱性遺傳的視網膜退行性疾病,其緻病基因為CYP4V2,常見的突變位點是c.802-8_810del17insGC(Exon7del)、c.992A＞C(p.H331P)和c.1091-2A＞G(Exon 9del),基因突變形式多樣.CYP4V2基因屬于細胞色素氧化酶P450傢族,編碼蛋白CYP4V2,主要髮揮脂肪痠的ω-氫基化作用.CYP4V2是眼部最主要的髮揮多不飽閤脂肪痠催化作用的細胞色素氧化酶,其內源性的底物是ω-3族多不飽閤脂肪痠,在眼部主要為二十二碳六烯痠(DHA).瞭解和研究CYP4 V2基因突變導緻BCD的髮病機製在該病的基因診斷和治療研究中具有重要意義.就BCD的分子病因學、CYP4V2酶的生化特性和CYP4V2基因突變導緻BCD髮病機製的研究進展進行綜述.
결정양시망막변성(BCD)시일충상염색체은성유전적시망막퇴행성질병,기치병기인위CYP4V2,상견적돌변위점시c.802-8_810del17insGC(Exon7del)、c.992A＞C(p.H331P)화c.1091-2A＞G(Exon 9del),기인돌변형식다양.CYP4V2기인속우세포색소양화매P450가족,편마단백CYP4V2,주요발휘지방산적ω-경기화작용.CYP4V2시안부최주요적발휘다불포합지방산최화작용적세포색소양화매,기내원성적저물시ω-3족다불포합지방산,재안부주요위이십이탄륙희산(DHA).료해화연구CYP4 V2기인돌변도치BCD적발병궤제재해병적기인진단화치료연구중구유중요의의.취BCD적분자병인학、CYP4V2매적생화특성화CYP4V2기인돌변도치BCD발병궤제적연구진전진행종술.
Bietti crystalline corneoretinal dystrophy (BCD) is a common form of hereditary retinal degeneration in Chinese.Mutation of the cytochrome P450 4V2 (CYP4V2) gene,a novel family member of the cytochrome P450 genes on chromosome 4q35,has been identified in BCD patients,with the common mutation locus at c.802-8 _ 810dell7insGC (Exon7del),c.992A ＞ C (p.H331 P) and c.1091-2A ＞ G (Exon 9del).CYP4V2 is responsible for oxidation of various substrates in the metabolic pathway,especially ω-hydroxylase activity towards ω-3 polyunsaturated fatty acids (PUFAs).CYP4V2 appears to be the only CYP4 memeber at significant levels in retinal cells,and it may be a prominent contributor to local metabolism of PUFAs,mainly DHA (C22:6n-3),in retinal cells.To understand and investigate the main mechanism of CYP4V2 gene mutation causing BCD is important in the study of genetic diagnosis and genetic management of BCD.This review summarized the current advance in the genetic mechanism of BCD and function of CYP4V2 gene,elucidated the substrate specificity and unraveled the biochemical pathways that may impact function of CYP4V2 in BCD patients.
