Lamin A/C mutant R482W Antibody ; Mouse Anti-Lamin A/C mutant R482W
Lamins and lamin-associated proteins help cell nuclear shape to remain appropriate and also provide a scaffold-type support system for chromosomes and replicating DNA to interact with epigenetic machinery. When mutations to these important proteins occur, serious familial diseases are instigated. The R482W lamin mutation causes familial partial lipodystrophy (FPLD) phenotypes, a disorder that causes affected individuals to be incapable of normal fat distribution, to have insulin resistance, dyslipidemia and early cardiac heart disease. The mutation affects the lamin C-terminal domain's ability to bind DNA, and is typically thought to be attributed to oxidative stress. Women affected by FPLD are even more afflicted, in that they are at a higher risk of infertility, gestational diabetes, obstectrical complications, insulin regulation dysfunctions, and hypercholesterolemia