Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway

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Mutations in the human LMNA gene cause muscular dystrophy that is often accompanied by heart disease. The LMNA gene makes proteins that form a network on the inner side of the nuclear envelope, a structure that reinforces the cell nucleus. How mutations in the LMNA gene cause muscle disease is not well understood. Our studies provide evidence that LMNA mutations activate an intracellular signaling pathway and alter the redox homeostasis of muscle tissue. Thus, our results suggest that blocking the signaling pathway and maintaining the oxidative state of the diseased muscle are potential therapies for muscular dystrophy patients with LMNA mutations.

Vyšlo v časopise: Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway. PLoS Genet 11(5): e32767. doi:10.1371/journal.pgen.1005231
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005231

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