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Protective variant for hippocampal atrophy identified by whole exome sequencing.
Ann Neurol ; 77(3): 547-52, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25559091
We used whole-exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in-silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole-brain analysis and meta-analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimer's disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next-generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Progressão da Doença / Disfunção Cognitiva / Exoma / Amnésia / Hipocampo Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Progressão da Doença / Disfunção Cognitiva / Exoma / Amnésia / Hipocampo Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article