دورية أكاديمية
أعرض في EDS

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.

التفاصيل البيبلوغرافية
العنوان: Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.
المؤلفون: Zheleznyakova GY; Faculty of Biology and Soil Science, Saint-Petersburg State University, Saint-Petersburg, Russia. galinazheleznyakova@gmail.com, Voisin S, Kiselev AV, Sällman Almén M, Xavier MJ, Maretina MA, Tishchenko LI, Fredriksson R, Baranov VS, Schiöth HB
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Sep; Vol. 21 (9), pp. 988-93. Date of Electronic Publication: 2013 Jan 09.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: London : Nature Publishing Group
Original Publication: Basel ; New York : Karger, [1992-
مواضيع طبية MeSH: Epigenesis, Genetic*, Muscular Atrophy, Spinal/*genetics , rab GTP-Binding Proteins/*genetics , rho GTP-Binding Proteins/*genetics, Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; CpG Islands ; DNA Methylation ; Gene Ontology ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Infant ; Male ; Muscular Atrophy, Spinal/pathology ; Sequence Analysis, DNA ; Young Adult ; rab GTP-Binding Proteins/metabolism ; rho GTP-Binding Proteins/metabolism
مستخلص: Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we performed the first genome-wide methylation profiling of SMA patients and healthy individuals to study the association of DNA methylation status with the severity of the SMA phenotype. We identified strong significant differences in methylation level between SMA patients and healthy controls in CpG sites close to the genes CHML, ARHGAP22, CYTSB, CDK2AP1 and SLC23A2. Interestingly, the CHML and ARHGAP22 genes are associated with the activity of Rab and Rho GTPases, which are important regulators of vesicle formation, actin dynamics, axonogenesis, processes that could be critical for SMA development. We suggest that epigenetic modifications may influence the severity of SMA and that these novel genetic positions could prove to be valuable biomarkers for the understanding of SMA pathogenesis.
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المشرفين على المادة: EC 3.6.5.2 (rab GTP-Binding Proteins)
EC 3.6.5.2 (rho GTP-Binding Proteins)
تواريخ الأحداث: Date Created: 20130110 Date Completed: 20140324 Latest Revision: 20211021
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC3746269
DOI: 10.1038/ejhg.2012.293
PMID: 23299920
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-5438
DOI:10.1038/ejhg.2012.293