美国梅奥医院的Rosa Rademakers医生领导的小组和国家老年病研究所的Bryan Traynor 领导的小组分别独立地发现渐冻人症和痴呆症源于同一个基因的突变,该基因就是C9ORF72。



近日,美国梅奥医院(Mayo  Clinic)的Rosa  Rademakers医生领导的小组和国家老年病研究所(National  Institute  on  Aging)的Bryan  Traynor 领导的小组分别独立地发现以上两种病症源于同一个基因的突变,该基因就是C9ORF72。Rademakers说,这个基因很不起眼,医生们过去对它的功能一无所知,但它现在是圈内每个人都等待已久的谜底。



Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.


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