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DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy
Author(s) -
Maretina Marianna,
Egorova Anna,
Baranov Vladislav,
Kiselev Anton
Publication year - 2019
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12288
Subject(s) - sma* , methylation , spinal muscular atrophy , gene , cpg site , phenotype , biology , exon , dna methylation , genetics , gene expression , mathematics , combinatorics
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.