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-? Protein Precursor.

Nan H, Kim YJ, Tsuchiya M, Fukao T, Hara N, Hagihara A, Nishioka K, Hattori N, Hara N, Ikeuchi T, Ohtsuka T, Takiyama Y

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. Biochemical analysis of CIAO1 protein revealed that the variant increases ...

the interaction of CIAO1 with immature amyloid-? protein precursor (A?PP), but not mature or soluble A?PP, indicating plausible CIAO1 involvement in A?PP processing. Our study indicates that a heterozygous variant in the CIAO1 gene may be closely related to autosomal dominant familial dementia.

Mesh Terms:
Aged, Alzheimer Disease, Amyloid beta-Protein Precursor, Brain, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Japan, Male, Metallochaperones, Mutation, Missense, Neuroimaging

J Alzheimers Dis

Date: Sep. 28, 2021

PubMed ID: 34569959

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Publication Summary

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-? Protein Precursor.