Confocal optical section, green is FITC (lamin A/C [JOL3]) and blue is DAPI (DNA). Cells were fixed in 4% paraformaldehyde in PEM buffer then extracted with 0.5% Triton X-100 before labelling with JOL3-FITC.

IHC using Lamin A+C Antibody [JOL2]: HRP conjugate on fixed human colon

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

Nuclear lamins are intermediate filament proteins that are the major structural component of the nuclear lamina on the inner surface of the nuclear envelope. Lamin A and Lamin C are splice variants of the Lamin A gene. Lamin A/C (CDCD1, LMN1, EMD2) expression is a hallmark of embryonic stem cell differentiation. In addition to adding structural integrity to the nucleus, lamins contribute to the makeup of the nuclear matrix. Lamins also help organize interphase chromatin through interactions with several chromatin proteins, including histones and Lap2, such that alteration in lamin organization (laminopathy) results in disruption of DNA replication, transcription and RNA processing. The R453W mutation is one of the most common causes of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD)

Immunocytochemistry/ Immunofluorescence - Lamin A + C antibody [JoL3] - Nuclear Envelope Marker

Western blot - Lamin A + C antibody [JoL5] - Nuclear Envelope Marker