DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy. (24th September 2018)

• Record Type: Journal Article
• Authors: Maretina, Marianna; Egorova, Anna; Baranov, Vladislav; Kiselev, Anton
• Is Part Of: Annals of human genetics. Volume 83:Number 2(2019:Mar.)
• Page Start: 73
• Page End: 81
• Publication Date: 2018-09-24
• Subjects: DNA methylation -- DYNC1H1 gene -- genetic modifier -- SMN -- spinal muscular atrophy; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12288
• Languages: English
• ISSNs: 0003-4800

Abstract

Abstract: Methylation profiles of CpG islands within the SLC23A2, CDK2AP1, and DYNC1H1 genes and their association with spinal muscular atrophy (SMA) severity were studied. High clinical heterogeneity of SMA suggests the existence of different factors modifying SMA phenotype with gene methylation as a plausible one. The genes picked up in our earlier genome‐wide methylation studies of SMA patients demonstrated obvious differences in their methylation patterns, thus suggesting the likely involvement of their protein products in SMA development. Significantly decreased methylation of CpG islands within exon 37 of the DYNC1H1 gene was observed in patients with a severe SMA manifestation (type I) compared to mildly affected SMA patients (types III–IV). This finding provides new information on peculiarities of methylation in clinically different types of SMA patients and gives a clue for identification of new SMA modifiers.