中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2012年
8期
755-758
,共4页
色觉缺陷%基因疗法
色覺缺陷%基因療法
색각결함%기인요법
Color vision defects%Gene therapy
全色盲是一种严重的先天性、致盲性、遗传性视网膜疾病.已发现有4个基因突变与其发病相关,分别是GNAT2、CNGA3、CNGB3及PDE6C.全色盲患者起病虽早,但病情进展十分缓慢,经基因治疗后视网膜功能恢复效果明显,因而受到研究者的极大关注,有望成为继Leber先天性黑矇之后,又一个即将进入Ⅰ期临床试验的视网膜遗传性疾病.近年来,随着分子遗传学研究和基因治疗技术的发展,以腺相关病毒载体介导的全色盲基因治疗的临床前研究取得了令人鼓舞的进步,因此,有必要进行全面综述,以提供相关研究者参考.
全色盲是一種嚴重的先天性、緻盲性、遺傳性視網膜疾病.已髮現有4箇基因突變與其髮病相關,分彆是GNAT2、CNGA3、CNGB3及PDE6C.全色盲患者起病雖早,但病情進展十分緩慢,經基因治療後視網膜功能恢複效果明顯,因而受到研究者的極大關註,有望成為繼Leber先天性黑矇之後,又一箇即將進入Ⅰ期臨床試驗的視網膜遺傳性疾病.近年來,隨著分子遺傳學研究和基因治療技術的髮展,以腺相關病毒載體介導的全色盲基因治療的臨床前研究取得瞭令人鼓舞的進步,因此,有必要進行全麵綜述,以提供相關研究者參攷.
전색맹시일충엄중적선천성、치맹성、유전성시망막질병.이발현유4개기인돌변여기발병상관,분별시GNAT2、CNGA3、CNGB3급PDE6C.전색맹환자기병수조,단병정진전십분완만,경기인치료후시망막공능회복효과명현,인이수도연구자적겁대관주,유망성위계Leber선천성흑몽지후,우일개즉장진입Ⅰ기림상시험적시망막유전성질병.근년래,수착분자유전학연구화기인치료기술적발전,이선상관병독재체개도적전색맹기인치료적림상전연구취득료령인고무적진보,인차,유필요진행전면종술,이제공상관연구자삼고.
Achromatopsia is an early onset retinal dystrophy that causes severe visual impairment.To date,four genes have been found to be implicated in achromatopsia-associated mutations:guanine nucleotide-binding protein ( GNAT2 ), cyclic nucleotide-gated channel alpha-3 ( CNGA3 ), cyclic nucleotide-gated channel beta-3 (CNGB3) and phosphodiesterase 6C (PDE6C).Even with early onset,the slow progress and the good responses to gene therapy in animal models render achromatopsia a very attractive candidate for human gene therapy after the successful of the Phase Ⅰ clinical trials of Leber's congenital amaurosis.With the development of molecular genetics and the therapeutic gene replacement technology,the adeno-associated viral ( AAV ) vector-mediated gene therapy for achromatopsia in the preclinical animal experiments achieved encouraging progress in the past years.This article briefly reviews the recent research achievements of achromatopsia with gene therapy.
