Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy.
Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy.
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DOI：
10.1172/jci176089
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发表时间：
2024-01-02
影响因子：
15.9
通讯作者：
Cooper, Thomas A.
中科院分区：
文献类型：
--
作者：
Nitschke, Larissa;Cooper, Thomas A.
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by an unstable expanded CTG repeat located in the 3′-UTR of the DM1 protein kinase (DMPK) gene. The pathogenic mechanism results in misregulated alternative splicing of hundreds of genes, creating the dilemma of establishing which genes contribute to the mechanism of DM1 skeletal muscle pathology. In this issue of the JCI, Cisco and colleagues systematically tested the combinatorial effects of DM1-relevant mis-splicing patterns in vivo and identified the synergistic effects of mis-spliced calcium and chloride channels as a major contributor to DM1 skeletal muscle impairment. The authors further demonstrated the therapeutic potential for calcium channel modulation to block the synergistic effects and rescue myopathy.
影响因子：
14.9
作者：
Tanner MK;Tang Z;Thornton CA
通讯作者：
Thornton CA