Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.

Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study re...

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Autores principales:	Lifang Wang, Jun Li, Yanyan Ruan, Tianlan Lu, Chenxing Liu, Meixiang Jia, Weihua Yue, Jing Liu, Thomas Bourgeron, Dai Zhang
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d69e640698c74c0f9ef7210d9944ee34
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spelling	oai:doaj.org-article:d69e640698c74c0f9ef7210d9944ee342021-11-18T08:01:06ZSequencing ASMT identifies rare mutations in Chinese Han patients with autism.1932-620310.1371/journal.pone.0053727https://doaj.org/article/d69e640698c74c0f9ef7210d9944ee342013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23349736/?tool=EBIhttps://doaj.org/toc/1932-6203Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation (p.R115W, p.V166I, p.V179G, and p.W257X). These four coding variants were observed in 6 of 398 (1.51%) patients with autism and none in 437 controls (Chi-Square test, Continuity Correction p = 0.032, two-sided). Functional prediction of impact of amino acid showed that p.R115W might affect protein function. These results indicate that ASMT might be a susceptibility gene for autism. Further studies in larger samples are needed to better understand the degree of variation in this gene as well as to understand the biochemical and clinical impacts of ASMT/melatonin deficiency.Lifang WangJun LiYanyan RuanTianlan LuChenxing LiuMeixiang JiaWeihua YueJing LiuThomas BourgeronDai ZhangPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 1, p e53727 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lifang Wang Jun Li Yanyan Ruan Tianlan Lu Chenxing Liu Meixiang Jia Weihua Yue Jing Liu Thomas Bourgeron Dai Zhang Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
description	Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation (p.R115W, p.V166I, p.V179G, and p.W257X). These four coding variants were observed in 6 of 398 (1.51%) patients with autism and none in 437 controls (Chi-Square test, Continuity Correction p = 0.032, two-sided). Functional prediction of impact of amino acid showed that p.R115W might affect protein function. These results indicate that ASMT might be a susceptibility gene for autism. Further studies in larger samples are needed to better understand the degree of variation in this gene as well as to understand the biochemical and clinical impacts of ASMT/melatonin deficiency.
format	article
author	Lifang Wang Jun Li Yanyan Ruan Tianlan Lu Chenxing Liu Meixiang Jia Weihua Yue Jing Liu Thomas Bourgeron Dai Zhang
author_facet	Lifang Wang Jun Li Yanyan Ruan Tianlan Lu Chenxing Liu Meixiang Jia Weihua Yue Jing Liu Thomas Bourgeron Dai Zhang
author_sort	Lifang Wang
title	Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
title_short	Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
title_full	Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
title_fullStr	Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
title_full_unstemmed	Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
title_sort	sequencing asmt identifies rare mutations in chinese han patients with autism.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/d69e640698c74c0f9ef7210d9944ee34
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Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.

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