Lmna gene

LMNA (Lamin A / C) is a protein-coding gene. LMNA is located on chromosome 1q22 and codes for Lamin (Lamin A / C). Lamin belongs to a family of proteins that are responsible for maintaining the structure and functions of the cell nucleus.

Mutations in the LMNA gene lead to pathological lamines, which make the cell nucleus unstable and lead to the development of so-called laminopathies. This group of diseases, which includes muscular dystrophies, manifests itself shortly after birth and often leads to early death. These include:

• Emery-Dreifuss muscular dystrophy
• Familial partial lipodystrophy
• Limb girdle muscular dystrophy
• Dilated cardiomyopathy
• Charcot-Marie-Tooth disease
• Lethal restrictive dermopathy.
• In Hutchinson-Gilford-Progeria syndrome(Progeria infantilis) there is a deletion of 50 amino acids in prelamine A (amino acids 607-656). removes the site for the second endoproteolytic cleavage. Consequently, no mature lamin A is formed and a farnesylated mutant prelamine A (progerin) accumulates in cells.

1. Earle AJ et al (2019) Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells. Nat Mater doi: 10.1038/s41563-019-0563-5