ArticleBMC medical genetics2011
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Long-Term Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children with Autism Spectrum Disorder.Journal of child and adolescent psychopharmacology · 2018Trial
- A clinical-translational review of sleep problems in neurodevelopmental disabilities.Journal of neurodevelopmental disorders · 2024Review
- The Improved Milk Quality and Enhanced Anti-Inflammatory Effect in Acetylserotonin-O-methyltransferase (Molecules (Basel, Switzerland) · 2022Article
- The Reserve/Maximum Capacity of Melatonin's Synthetic Function for the Potential Dimorphism of Melatonin Production and Its Biological Significance in Mammals.Molecules (Basel, Switzerland) · 2021Review
- Control of Tissue Fibrosis by 5-Methoxytryptophan, an Innate Anti-Inflammatory Metabolite.Frontiers in pharmacology · 2021Review
- Polymorphisms in the ASMT and ADAMTS1 gene may increase litter size in goats.Veterinary medicine and science · 2020Article
- Hydroxyindole-Heliyon · 2019Article
- Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers.Metabolic brain disease · 2017Article
- Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders.Scientific reports · 2017Article
- Relationship between Oxidative Stress, Circadian Rhythms, and AMD.Oxidative medicine and cellular longevity · 2016Review
- Influencing circadian and sleep-wake regulation for prevention and intervention in mood and anxiety disorders: what makes a good homeostat?Annals of the New York Academy of Sciences · 2014Article
- ASMT gene expression correlates with cognitive impairment in patients with recurrent depressive disorder.Medical science monitor : international medical journal of experimental and clinical research · 2014Article
- Melatonin antioxidative defense: therapeutical implications for aging and neurodegenerative processes.Neurotoxicity research · 2013Review
- Article
- Polymorphisms in melatonin synthesis pathways: possible influences on depression.Journal of circadian rhythms · 2011Article
- A literature search tool for intelligent extraction of disease-associated genes.Journal of the American Medical Informatics Association : JAMIAArticle
Corrections and comments
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Authors and funding
21 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIntellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a subgroup of patients, the endogenous melatonin level may not be sufficient to adequately set the sleep-wake cycles. Mutations in ASMT gene, coding the last enzyme of the melatonin pathway have been reported as a risk factor for autism spectrum disorders (ASD), which are often comorbid with ID. Thus the aim of the study was to ascertain the genetic variability of ASMT in a large cohort of patients with ID and controls.
methodsHere, we sequenced all exons of ASMT in a sample of 361 patients with ID and 440 controls. We then measured the ASMT activity in B lymphoblastoid cell lines (BLCL) of patients with ID carrying an ASMT variant and compared it to controls.
resultsWe could identify eleven variations modifying the protein sequence of ASMT (ID only: N13H, N17K, V171M, E288D; controls only: E61Q, D210G, K219R, P243L, C273S, R291Q; ID and controls: L298F) and two deleterious splice site mutations (IVS5+2T>C and IVS7+1G>T) only observed in patients with ID. We then ascertained ASMT activity in B lymphoblastoid cell lines from patients carrying the mutations and showed significantly lower enzyme activity in patients carrying mutations compared to controls (p = 0.004).
conclusionsWe could identify patients with deleterious ASMT mutations as well as decreased ASMT activity. However, this study does not support ASMT as a causative gene for ID since we observed no significant enrichment in the frequency of ASMT variants in ID compared to controls. Nevertheless, given the impact of sleep difficulties in patients with ID, melatonin supplementation might be of great benefit for a subgroup of patients with low melatonin synthesis.
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