Friday, July 8, 2011

Devastating genetics: Laminopathies

Laminopathies are genetic conditions caused by defects in lamin A/C, commonly mutations in LMNA and other genes. The lamins make up the protein matrix adjacent to the inner nuclear membrane. Thus, laminopathies are a type of nuclear envelopathy. Mutations in the LMNA gene result in destabilization of the nuclear envelope, disrupted chromatin structure, and interrupted gene expression. The gene encodes three protein isoforms, so mutations can have a broad range of effects, specific tissues or more generalized, depending on the exact mutation, and the list includes progeria, muscular dystrophy, Charcot-Marie-Tooth, and lipodystrophy.

Read more about types of laminopathy.

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