Journal of Zhejiang University. B. Science, 2016, Vol.17 (1), p.76-82
2016
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- Autor(en) / Beteiligte
- Titel
- Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy
- Ist Teil von
- Journal of Zhejiang University. B. Science, 2016, Vol.17 (1), p.76-82
- Ort / Verlag
- Hangzhou: Zhejiang University Press
- Erscheinungsjahr
- 2016
- Quelle
- Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
- Beschreibungen/Notizen
- The homozygous loss of the survival motor neuron 1 （SMN1） gene is the primary cause of spinal muscular atrophy （SMA）, a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed the methylation levels of 4 CpG islands （CGIs） in SMN2 in 35 Chinese children with SMA by MassARRAY. We found that three CpG units located in CGI 1 （nucleotides （nt） -871, -735） and CGI 4 （nt ＋999） are significantly hypomethylated in SMA type III compared with type I or II children after receiving Bonferroni correction. In addition to the differentially methylated CpG unit of nt -871, the methylation level of the nt -290/-288/-285 unit was negatively correlated with the expression of SMN2 full-length transcripts （SMN2-fl）. In addition, the methylation level at nt ＋938 was inversely proportional to the ratio of SMN2-fl and lacking exon 7 transcripts （SMN2-A7, fl/A7）, and was not associated with the SMN2 transcript levels. Thus, we can conclude that SMN2 methylation may regulate the SMA disease phenotype by modulating its transcription.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1673-1581eISSN: 1862-1783DOI: 10.1631/jzus.B1500072Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4710843
- Format
- –
- Schlagworte
- Atrophy, Biomedical and Life Sciences, Biomedicine, Central pattern generator, CGIS, Child, Preschool, Children, China - epidemiology, CpG islands, CpG Islands - genetics, DNA Methylation, Female, Genetic Association Studies, Genetic Markers - genetics, Genetic Predisposition to Disease - epidemiology, Genetic Predisposition to Disease - genetics, Humans, Infant, Male, Motor task performance, Neuromuscular diseases, Nucleotides, Polymorphism, Single Nucleotide - genetics, Prevalence, Risk Assessment, Severity of Illness Index, SMN protein, Spinal Muscular Atrophies of Childhood - diagnosis, Spinal Muscular Atrophies of Childhood - epidemiology, Spinal Muscular Atrophies of Childhood - genetics, Spinal muscular atrophy, Survival of Motor Neuron 2 Protein - genetics, Transcription, 严重程度, 儿童, 关联, 甲基化水平, 神经退行性疾病, 肌肉萎缩症, 脊髓