Lamin A C Muscle

These findings demonstrate that a lamin a c gene mutation can result in a pure dcm phenotype without skeletal muscle involvement and that lgmd1 b which maps to the same genetic locus 9 is likely to be due to mutations in the lamin a c gene.

Lamin a c muscle. Finally the identification of this mutation in the lamin a c gene further supports the model that dcm. Laminopathies are caused among other mutations to mutations in lmna a gene that synthetizes lamins a and c. Methods and results on the basis of the clinical observation of both cardiac and skeletal muscle abnormalities in the mddc1 family the lamin a c gene was examined in this kindred. Further mechanistic studies reveal an elevation of cellular senescence marked by senescence associated beta galactosidase sa β gal p16ink4a and p53 in lamin a c deficient muscles and c2c12 muscle cells and the p16ink4a may.

Congenital muscular dystrophy lamin a c. Skeletal muscle dystrophy and dilated cardiomyopathy are commonly seen in people with lmna missense mutations that impair the function of the protein often in a dominant negative fashion 13 15. Lmna also known as lamin a c is a protein that in humans is encoded by the lmna gene. Coding regions were polymerase chain reaction amplified from.

Biogenesis of lamin a in normal cells and the failure to generate mature lamin a in hutchinson gilford progeria. Stop codons splice site variants or insertions deletions within the human lamin a gene can also reduce the amount of lamin a c proteins 13 15. This view was in light of the literature report that il 6 is a key factor of sasp. Many immature type 2c intermediate staining muscle fibers.

To understand how muscle lamin a c regulates il 6 expression we wondered whether il 6 is one of the senescence associated secretory phenotype sasp factors induced by loss of lamin a c in muscles. Lamin a c congenital muscular dystrophy cmd l cmd congenital muscular dystrophy associated to the lmna gene or emery dreifuss muscular dystrophy ii is a disease that it is included in laminopathies. Lamin a c belongs to the lamin family of proteins. Knockout ko of il 6 in muscle lamin a c ko mice diminishes the deficits in trabecular bone mass but not muscle.

This illness implies like other muscular dystrophies muscle weakness motor.