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- 저자 : Lingyan Shen (검색결과 1 건)
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Novel GRN mutations in Koreans with Alzheimer’s disease
Lingyan Shen,Seong Soo A. An,Eva Bagyinszky,Vo Van Giau,Seong Hye Choi,SangYun Kim 대한독성 유전단백체 학회 2019 Molecular & cellular toxicology Vol.15 No.3
Backgrounds: Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are the two most common neurodegenerative diseases leading to early onset dementia (<65 years). Mutations in the amyloid precursor protein, presenilin, and presenilin 2 genes are involved in some cases of familial early-onset AD (EOAD), while the microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations have been mainly identified in FTD patients. Clinically, FTD was often misdiagnosed and confused with AD or psychiatric disorders, which could be a challenge in disease diagnosis. Methods: We performed mutation analysis of GRN in 89 Korean patients with clinically diagnosed EOAD. In silico predictions were also performed for the variants to estimate their role in different disorders. Results: No pathological mutations in MAPT was identified, but we identified two novel genetic variations in the GRN gene: p.Leu585Phe (c.1767G>T) and c.IVS8+23_+26delTGGG, which occurred independently in two EOAD patients (frequenct of 2/89, 2.2%). Using a combination of clinical and association studies, in silico prediction, and 3-D modeling software, we suggest that both mutations are probably pathogenic and involved in FTD. Conclusion: Our data suggest that it would be important to re-examine EOAD patients who had been diagnosed when the FTD spectrum was not well described and the causative FTD genes had not yet been identified. In addition, we propose initially analyzing genes associated with the first form of suspected dementia and, if the results are negative, studying genes implicated in the other form of dementia.v
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