Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems
Por:
Ballester-Navarro, P, Martinez-Madrid, M, Javaloyes-Sanchis, A, Belda-Canto, C, Aguilar, V, Inda, M, Richdale, A, Muriel, J, Morales, D and Peiro, A
Publicada:
1 mar 2021
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 PERI, ASMT, NPAS2, and MTNRIA 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 18-4lyears), PERI 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.
Filiaciones:
:
Alicante Inst Hlth & Biomed Res ISABIAL FISABIO F, Neuropharmacol Pain NED, Alicante, Spain
Martinez-Madrid, M:
Univ Murcia UMu, Chronobiol Lab, Murcia, Spain
Javaloyes-Sanchis, A:
Educ Ctr Children & Adolescents Autism Mental Hlt, EDUCATEA, Alicante, Spain
Belda-Canto, C:
Infanta Leonor Autism Ctr, Alicante, Spain
Aguilar, V:
San Rafael Autism Ctr, Santa Faz, Spain
:
Alicante Inst Hlth & Biomed Res ISABIAL FISABIO F, Neuropharmacol Pain NED, Alicante, Spain
Richdale, A:
La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol & Publ Hlth, Melbourne, Vic, Australia
:
Alicante Inst Hlth & Biomed Res ISABIAL FISABIO F, Neuropharmacol Pain NED, Alicante, Spain
Morales, D:
Miguel Hernandez Univ, Operat Res Ctr, Genet Stat Grp, Alicante, Spain
:
Alicante Inst Hlth & Biomed Res ISABIAL FISABIO F, Neuropharmacol Pain NED, Alicante, Spain
Gen Hosp Alicante, Clin Pharmacol, Alicante, Spain
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