Do lamin A/C and emerin mutations in satellite cells contribute to Emery-Driefuss muscular dystrophy?

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Muscle is made of thousands of muscle fibres, which are repaired and regenerated by muscle stem cells called satellite cells. Muscular dystrophies are a group of inherited disorders that are characterised by progressive muscle weakness and degeneration. Since muscle is responsible for movement, its gradual loss in muscular dystrophies can severely affect the quality of life of a patient, and in some disorders, drastically shorten their lifespan. Compromised satellite cell function is thought to contribute to loss of muscle in some of these conditions, including Emery-Dreifuss muscular dystrophy (EDMD). It has been shown that EDMD is caused by problems in genes that make proteins involved in maintaining a healthy nucleus. We intend to examine satellite cells from patients suffering from EDMD to understand how these mutated proteins affected their function and so muscle repair. We will also use mouse models of the disease to study satellite cell biology. Findings on mouse satellite cells should be broadly applicable to man. Theoretically, manipulation of satellite cells could both augment and prolong muscle function in people with muscular dystrophy, which also has the advantage of maintaining a muscle environment still capable of responding to other forms of therapy.