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Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems


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Título :
Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems
Autor :
Ballester, Pura  
Martínez-Madrid, María José
Javaloyes, María Auxiliadora  
Belda-Cantó, César
Aguilar, Victor  
Inda, María del Mar
Richdale, Amanda  
Muriel, Javier  
Morales, Domingo  
Peiró, Ana  
Editor :
Elsevier
Departamento:
Departamentos de la UMH::Farmacología, Pediatría y Química Orgánica
Fecha de publicación:
2021-03
URI :
https://hdl.handle.net/11000/32542
Resumen :
Background: People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method: Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results: In autistic cases (age 18􀀀 41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions: Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles.
Palabras clave/Materias:
Autism spectrum disorder
Sleep problems
Circadian clock genes
Melatonin pathway genes
Ambulatory circadian monitoring
Área de conocimiento :
CDU: Ciencias aplicadas: Medicina: Farmacología. Terapéutica. Toxicología. Radiología
Tipo documento :
application/pdf
Derechos de acceso:
info:eu-repo/semantics/closedAccess
DOI :
https://doi.org/10.1016/j.rasd.2020.101715
Aparece en las colecciones:
Artículos Farmacología, Pediatría y Química Orgánica



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