CLN3基因与疾病研究进展

CLN3基因的编码产物是一种凋亡抑制膜蛋白,在正常组织及细胞中CLN3呈低表达状态;Batten病是由于CLN3发生1kb的基因缺失突变引发的;在多种肿瘤中均发现CLN3基因过表达;反义CLN3能封闭某些肿瘤细胞CLN3基因表达,起抗肿瘤作用。CLN3可能通过调节神经酰胺的合成,也可能通过调节下游基因的表达调节细胞凋亡过程,与肿瘤的发生、发展及治疗有着密切关系。

Advances in research on CLN3 gene and diseases

CLN3 gene product is an antiapoptotic membrane protein, the expressions of CLN3 in normal tissues and cells are at very low level. Juvenile-Batten disease is a neurodegenerative disease caused by accelerated apoptosis of photoreceptors and neurons resulting from deletion of 1.02 kb in the CLN3 gene. A number of observations showed that CLN3 mRNA and protein are overexpressed in a variety of human cancer cell lines. Blocking of CLN3 expression using an adenovirus-expressing antisense CLN3 inhibited growth and viability of cancer cells. CLN3 may regulate apoptosis through modulating ceramide synthesis or the expression of some down stream genes. More importantly, these results suggested that CLN3 is a novel molecular target for the etiology, progression and theraputics of cancer.