| Revista: | Revista de investigación clínica |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000454154 |
| ISSN: | 0034-8376 |
| Autores: | Martínez Magaña, José J1 Genís Mendoza, Alma D1 González Covarrubias, Vanessa2 Jiménez Guenchi, Janet3 Galindo Chávez, Aidé G3 Roche Bergua, Andrés3 Castañeda González, Carlos3 Lanzagorta, Nuria4 Soberón, Xavier2 Nicolini, Humberto1 |
| Instituciones: | 1Instituto Nacional de Medicina Genómica, Laboratorio de Genómica de Enfermedades Psiquiátricas y Neurodegenerativas, Ciudad de México. México 2Instituto Nacional de Medicina Genómica, Laboratorio de Farmacogenómica, Ciudad de México. México 3Hospital Psiquiátrico Fray Bernardino Alvarez, Ciudad de México. México 4Grupo de Estudios Médicos y Familiares, Ciudad de México. México |
| Año: | 2019 |
| Periodo: | Jul-Ago |
| Volumen: | 71 |
| Número: | 4 |
| Paginación: | 246-254 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | 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 |
| Disciplinas: | Medicina |
| Palabras clave: | Neurología, Genética, Psiquiatría, Demencia, Esquizofrenia, Determinantes genéticos, Secuenciamiento de próxima generación |
| Keyword: | Neurology, Genetics, Psychiatry, Genetic determinants, Next Generation Sequencing (NGS), Dementia, Schizophrenia |
| Texto completo: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
