Exploratory analysis of rare and novel variants in Mexican patients diagnosed with schizophrenia and dementia
Rev. invest. clín
;
71(4): 246-254, Jul.-Aug. 2019. tab
Artigo
em Inglês
| LILACS
| ID: biblio-1289693
ABSTRACT
Abstract Background Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and novel damaging gene variants in patients diagnosed with late-onset dementia of Alzheimers type (DAT) or SCZ. Methods We included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes. Results We found novel and rare damaging variants in 18 genes in these Mexican patients. Carriers of these variants showed extreme phenotypes, including, treatment-resistant SCZ or cognitive decline. Furthermore, we found a variation on ABCC1 as a possible link between psychosis and cognitive impairment. Discussion As an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Esquizofrenia
/
Demência
/
Doença de Alzheimer
/
Disfunção Cognitiva
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
País/Região como assunto:
México
Idioma:
Inglês
Revista:
Rev. invest. clín
Assunto da revista:
Medicina
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
México
Instituição/País de afiliação:
Grupo de Estudios Médicos y Familiares/MX
/
Instituto Nacional de Medicina Genómica/MX
/
SSA/MX
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