Perez-Tur J, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts G W, Lancaster S, Haltia T
Suncoast Alzheimer's Disease Laboratories, Department of Psychiatry, University of South Florida, Tampa 33613, USA.
Neurodegeneration. 1996 Sep;5(3):207-12. doi: 10.1006/neur.1996.0028.
Recent studies suggest that mutations in the presenilin 1 gene, which encodes a polypeptide predicted to be a multispanning membrane protein, are responsible for the majority of cases of early onset, autosomal dominant Alzheimer's disease. Here we describe a further mutation in the presenilin 1 gene (R269G) in a family with early onset Alzheimer's disease. This mutation is in exon 8 which appears to be a favoured region for pathogenic mutations. In the presenilin protein the region coded for by this exon is likely to comprise a domain located on the membrane surface. We discuss the likely effects of the exon 8 mutations on the structure of the exon and in the pathogenesis of the disease.
最近的研究表明，早老素1基因（该基因编码一种预计为多跨膜蛋白的多肽）的突变是早发性常染色体显性阿尔茨海默病大多数病例的病因。在此，我们描述了一个早发性阿尔茨海默病家族中早老素1基因的另一个突变（R269G）。该突变位于第8外显子，这似乎是一个致病性突变的高发区域。在早老素蛋白中，该外显子编码的区域可能包含一个位于膜表面的结构域。我们讨论了第8外显子突变对该外显子结构以及疾病发病机制可能产生的影响。
