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Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy

Title
Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy
Authors
Park H.J.Hong J.-M.Lee J.H.Shin H.Y.Kim S.M.Park K.D.Choi Y.-C.
Ewha Authors
박기덕
SCOPUS Author ID
박기덕scopus
Issue Date
2019
Journal Title
Neuromuscular Disorders
ISSN
0960-8966JCR Link
Citation
Neuromuscular Disorders vol. 29, no. 4, pp. 274 - 281
Keywords
ADSSL1Gene expressionMyopathyPathomechanismRNA-SeqTranscriptome
Publisher
Elsevier Ltd
Indexed
SCI; SCIE; SCOPUS scopus
Document Type
Article
Abstract
ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. We generated transcriptome profiles of muscles from control subjects and patients with ADSSL1 myopathy. In the present study, RNA sequencing was conducted with seven vastus lateralis muscle samples from four patients with ADSSL1 myopathy and three control subjects. The hierarchical clustering result revealed a separation between myopathy and control groups. A total of 1,260 transcripts were significantly differentially expressed (

fold change

≥ 2, p < 0.05), with 740 upregulated transcripts and 520 downregulated transcripts in myopathy group. Eighteen transcripts that mapped to purine metabolism pathway were significantly differentially expressed between the two groups, with ten downregulated transcripts and eight upregulated transcripts in myopathy group. In particular, three genes involved in purine nucleotide cycle (ADSSL1, ADSL, and AMPD1) were significantly downregulated in myopathy group. Ten transcripts in glycolysis/gluconeogenesis pathway were also significantly differentially expressed. This is the first study on the altered expression of transcripts in muscle tissues from patients with ADSSL1 myopathy. Our results provide new insights into the pathogenesis of ADSSL1 myopathy. © 2019 Elsevier B.V.
DOI
10.1016/j.nmd.2018.11.003
Appears in Collections:
의과대학 > 의학과 > Journal papers
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