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P3‐142: Novel, Probably Pathogenic CLU Mutation (TRP15ARG) in a Korean Normal Pressure Hydrocephalus Disease (NPH) Patient
Author(s) -
Van Giau Vo,
Kim SangYun,
An Seong Soo
Publication year - 2016
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2016.06.1802
Subject(s) - normal pressure hydrocephalus , dementia , pathogenesis , mutation , disease , genetic heterogeneity , medicine , etiology , pathology , genetics , alzheimer's disease , bioinformatics , gene , biology , phenotype
Background:Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain’s ventricles, or cavities. NPH can occur in people of any age, but it is most common in the elderly. Clinically, this is a type of dementia, related to Alzheimer’s disease (AD). An understanding of the genetic components and its disorder may offer us significant insights into the molecular etiology of an accumulation of the CSF in cerebral compartments during the pathogenesis of NPH. Cluterin gene (CLU) might be involved in pathways regulating Ab clearance from the brain, and mutations within cluterin gene (CLU) is suspected to be a contributor to the build-up of CSF in brain tissue. Methods: The mutation was detected in exon 1 of an 81 year-old male with recurrent NPH patient, who disclosed a dementia of the Alzheimer type. Combining sequence analysis, in silico analysis and protein structural modeling, which provides more evidence to show the genetic heterogeneity associated with NPH and paves the way for discovering new disease genes for NPH. Results:We report the characterization of a novel mutation in the CLU, created by amino acid position W15R. Additionally, dataset sequence of 60,706 unrelated individuals were screened, which could be used in the various disease-specific and population genetic studies. Conclusions: Further studies involving the genetic is necessary to elucidate their role in the pathogenesis of NPH.