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A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor
Journal of Alzheimer’s Disease ( IF 4 ) Pub Date : 2021-09-23 , DOI: 10.3233/jad-210706
Haitian Nan 1 , Yeon-Jeong Kim 2 , Mai Tsuchiya 1 , Toko Fukao 1 , Noriko Hara 3 , Atsushi Hagihara 3 , Kenya Nishioka 4 , Nobutaka Hattori 4 , Norikazu Hara 5 , Takeshi Ikeuchi 5 , Toshihisa Ohtsuka 2 , Yoshihisa Takiyama 1
Affiliation  

Familial dementia is a rare inherited disease involving progressive impairment of memory, thinking, and behavior. We report a novel heterozygous pathogenic variant (c.199G > A, p.Val67Ile) in the CIAO1 gene that appears to be co-segregated with Alzheimer’s disease in a Japanese family. Biochemicalanalysis of CIAO1 protein revealed that the variant increases the interaction of CIAO1 with immature amyloid-β protein precursor (AβPP), but not mature or soluble AβPP, indicating plausible CIAO1 involvement in AβPP processing. Our study indicates that a heterozygous variant in the CIAO1 gene may be closely related to autosomal dominant familial dementia.

中文翻译:

阿尔茨海默病家族中 CIAO1 基因中的一种新型杂合错义变体:Val67Ile 变体促进 CIAO1 和淀粉样蛋白-β 前体蛋白的相互作用

家族性痴呆是一种罕见的遗传性疾病,涉及记忆、思维和行为的进行性损害。我们报告了 CIAO1 基因中的一种新型杂合致病性变异 (c.199G > A, p.Val67Ile),它似乎与日本家庭中的阿尔茨海默病共同分离。CIAO1 蛋白的生化分析显示,该变体增加了 CIAO1 与未成熟淀粉样β蛋白前体 (AβPP) 的相互作用,但不增加成熟或可溶性 AβPP,表明 CIAO1 可能参与 AβPP 加工。我们的研究表明,CIAO1 基因中的杂合变异可能与常染色体显性家族性痴呆密切相关。
更新日期:2021-09-24
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