학술논문
Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy / ADSSL1 근육병에서 골격근의 상대적인 전사체 분석
Document Type
Dissertation/ Thesis
Author
Source
Subject
Language
English
Abstract
원위부 근육병의 한 원인으로 ADSSL1 근육병이 최초로 국내에서 확인되었다. 본 연구진은 대조군과 ADSSL1 근육병 환자군의 골격근에서 전사체 발현 양상을 비교하였다. 3명의 대조군과 4명의 환자군의 가쪽넓은근에서 채취된 골격근으로 RNA 염기서열 분석을 시행하였다. 대조군과 환자군 간의 전사체 발현 차이는 계층적 군집화 (hierarchical clustering)를 통하여 확인할 수 있었다. 총 1,260개의 전사체가 차등 발현이 되었고 (|fold change| ≥2, p
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
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