LMNA

(redirected from CMD1A)

LMNA

A gene on chromosome 1q22 that encodes lamin A/C, a protein highly conserved in evolution that forms part of the two-dimensional matrix of proteins located next to the inner nuclear membrane. Lamins are involved in providing nuclear stability and chromatin structure, and in gene expression.

Molecular pathology
LMNA mutations cause the so-called laminopathies—e.g., Charcot-Marie-Tooth disease type 2B1, progeria (Hutchinson-Gilford syndrome), dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb-girdle muscular dystrophy type 1B, mandibuloacral dysplasia, and some cases of Werner syndrome.
References in periodicals archive ?
Jeffrey Boone Miller, the team at BBRI is seeking to identify therapies for Congenital Muscular Dystrophy Type 1A, CMD1A, by preventing a type of cell death termed apoptosis, or programmed cell death.
These findings provide new insight into the normal function of Lama2 as a signaling protein that instructs muscles that they are healthy and identify Bax as a drug target for the development of pharmacological therapeutics to treat CMD1A muscular dystrophy.
Miller's laboratory is now working to screen for Bax drug inhibitors to treat CMD1A in the Lama2-deficient mouse model as well as to determine if additional neuromuscular degenerative diseases, such as Limb-Girdle Muscular Dystrophies, can be ameliorated by targeted alterations of Bax and other Bcl-2 checkpoint proteins.