Skibinski Gaia, Parkinson Nicholas J, Brown Jeremy M, Chakrabarti Lisa, Lloyd Sarah L, Hummerich Holger, Nielsen Jørgen E, Hodges John R, Spillantini Maria Grazia, Thusgaard Tove, Brandner Sebastian, Brun Arne, Rossor Martin N, Gade Anders, Johannsen Peter, Sørensen Sven Asger, Gydesen Susanne, Fisher Elizabeth M C, Collinge John
MRC Prion Unit, Institute of Neurology, University College London, London, UK.
Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24.
We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.
我们之前报道过一个丹麦大家族，其患有与3号染色体相关的常染色体显性额颞叶痴呆（FTD3）。在此，我们在编码内体转运所需分选复合体Ⅲ（ESCRTIII）复合物一个组分的CHMP2B中鉴定出一个突变，并表明该突变在来自这个家族受影响成员的组织样本中导致异常的mRNA剪接。我们还描述了一名患有FTD的无关个体中的另一个错义突变。内体ESCRTIII复合物的异常可能导致FTD和神经退行性疾病。
