Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion · 2019
EXPLORATORY ANALYSIS OF RARE AND NOVEL VARIANTS IN MEXICAN PATIENTS DIAGNOSED WITH SCHIZOPHRENIA AND DEMENTIA.
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Martínez-Magaña José J, Genís-Mendoza Alma D, González-Covarrubias Vanessa, Jiménez-Guenchi Janet, Galindo-Chávez Aidé G, Roche-Bergua Andrés, Castañeda-González Carlos, Lanzagorta Nuria, Soberón Xavier, Nicolini Humberto
Аннотация
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 Alzheimer's 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.
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.