L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish.

ABSTRACT:

Background

Congenital myopathy (CM) is a group of clinically and genetically heterogeneous muscle disorders, characterized by muscle weakness and hypotonia from birth. Currently, no definite treatment exists for CM. A de novo mutation in Tropomyosin 3-TPM3(E151G) was identified from a boy diagnosed with CM, previously TPM3(E151A) was reported to cause CM. However, the role of TPM3(E151G) in CM is unknown.

Methods

Histopathological, swimming behavior, and muscle endurance were monitored in TPM3 wild-type and mutant transgenic fish, modelling CM. Gene expression profiling of muscle of the transgenic fish were studied through RNAseq, and mitochondria respiration was investigated.

Results

While TPM3(WT) and TPM3(E151A) fish show normal appearance, amazingly a few TPM3(E15

SUBMITTER: Hsu PJ 

PROVIDER: S-EPMC7802209 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature