March 1, 2024Nature GeneticsOpen Access

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

View Full Paper

Ask AI

Bookmark

Authors

ATAna TöpfNIHR Newcastle Biomedical Research Centre DCDan CoxMuscular Dystrophy UK IZIrina ZaharievaGreat Ormond Street Hospital

Discussion

Member takes

Implication

Genetic analysis reveals skeletal muscle myopathy from co-occurring SRPK3 and TTN variants in humans and zebrafish, indicating digenic inheritance in neuromuscular disease.

Key Points

Progressive skeletal muscle myopathy occurs only when deleterious variants in SRPK3 and TTN co-occur, demonstrating a rare digenic inheritance mechanism.
Zero of 76,702 healthy male individuals carried both variants, and double-mutant zebrafish replicated myofibrillar disorganization and myopathy phenotypes.
Statistical modeling and transcriptome profiling suggest that srpk3 and ttn.1 interact post-transcriptionally; zebrafish model, further validation needed.

Cite This Study

Töpf et al. (2024) studied this question.

synapsesocial.com/papers/68e7604eb6db6435876d77ca https://doi.org/10.1038/s41588-023-01651-0

View Full Paper

Ask AI

Bookmark

Implication

Genetic analysis reveals skeletal muscle myopathy from co-occurring SRPK3 and TTN variants in humans and zebrafish, indicating digenic inheritance in neuromuscular disease.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Discussion

Member takes

Implication

Key Points

Cite This Study

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider