Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy

Hyung Jun Park, Ji Man Hong, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Youngchul Choi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)274-281
Number of pages8
JournalNeuromuscular Disorders
Volume29
Issue number4
DOIs
Publication statusPublished - 2019 Apr 1

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Gene Expression Profiling
Muscular Diseases
Skeletal Muscle
Down-Regulation
Muscles
Distal Myopathies
RNA Sequence Analysis
Purine Nucleotides
Gluconeogenesis
Quadriceps Muscle
Glycolysis
Transcriptome
Cluster Analysis
Control Groups

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Park, H. J., Hong, J. M., Lee, J. H., Shin, H. Y., Kim, S. M., Park, K. D., ... Choi, Y. (2019). Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy. Neuromuscular Disorders, 29(4), 274-281. https://doi.org/10.1016/j.nmd.2018.11.003
Park, Hyung Jun ; Hong, Ji Man ; Lee, Jung Hwan ; Shin, Ha Young ; Kim, Seung Min ; Park, Kee Duk ; Lee, Ji Hyun ; Choi, Youngchul. / Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy. In: Neuromuscular Disorders. 2019 ; Vol. 29, No. 4. pp. 274-281.
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Park, HJ, Hong, JM, Lee, JH, Shin, HY, Kim, SM, Park, KD, Lee, JH & Choi, Y 2019, 'Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy', Neuromuscular Disorders, vol. 29, no. 4, pp. 274-281. https://doi.org/10.1016/j.nmd.2018.11.003

Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy. / Park, Hyung Jun; Hong, Ji Man; Lee, Jung Hwan; Shin, Ha Young; Kim, Seung Min; Park, Kee Duk; Lee, Ji Hyun; Choi, Youngchul.

In: Neuromuscular Disorders, Vol. 29, No. 4, 01.04.2019, p. 274-281.

Research output: Contribution to journalArticle

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