额颞叶痴呆中的p62/SQSTM1分析
p62/SQSTM1 analysis in frontotemporal lobar degeneration.
作者信息
Miller Louise, Rollinson Sara, Callister Janis Bennion, Young Kate, Harris Jenny, Gerhard Alex, Neary David, Richardson Anna, Snowden Julie, Mann David M A, Pickering-Brown Stuart M
机构信息
Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital NHS Foundation Trust, Salford, UK.
出版信息
Neurobiol Aging. 2015 Mar;36(3):1603.e5-9. doi: 10.1016/j.neurobiolaging.2014.08.035. Epub 2014 Oct 18.
Mutations in the gene p62/SQSTM1 have been reported as a relatively rare cause of frontotemporal lobar degeneration (FTLD). To establish whether this was the case for cases of FTLD from the United Kingdom, we sequenced the sequenced the entire open reading frame of this gene in a large cohort of patients. We identified 3 novel mutations in p62/SQSTM1 in 4 patients. One of these was a premature stop codon that removed the last 101 amino acids of the protein that presumably has a negative effect on protein function. Another mutation was also found in a case with a repeat expansion mutation in C9orf72 confirmed by Southern blot. These findings confirm a role of p62/SQSTM1 as a cause of FTLD.
据报道，基因p62/SQSTM1的突变是额颞叶痴呆（FTLD）相对罕见的病因。为确定英国FTLD病例是否如此，我们对一大群患者的该基因整个开放阅读框进行了测序。我们在4名患者中鉴定出p62/SQSTM1的3个新突变。其中一个是提前终止密码子，它去除了该蛋白质的最后101个氨基酸，推测这对蛋白质功能有负面影响。在另一例经Southern印迹证实存在C9orf72重复扩增突变的病例中也发现了另一个突变。这些发现证实了p62/SQSTM1作为FTLD病因的作用。
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