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Revista de investigación clínica
versión On-line ISSN 2564-8896versión impresa ISSN 0034-8376
Resumen
MARTINEZ-MAGANA, José J. et al. Exploratory Analysis of Rare and Novel Variants in Mexican Patients Diagnosed with Schizophrenia and Dementia. Rev. invest. clín. [online]. 2019, vol.71, n.4, pp.246-254. Epub 12-Abr-2021. ISSN 2564-8896. https://doi.org/10.24875/ric.19002923.
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.
Palabras llave : Next-generation sequencing; Dementia; Schizophrenia; Novel variants; Rare variants.
