| LMNA — Lamin A/C | |
|---|---|
| Symbol | LMNA |
| Full Name | Lamin A/C |
| Chromosome | 1q22 |
| NCBI Gene | 3999 |
| OMIM | 150330 |
| Ensembl | ENSG00000160789 |
| UniProt | P02545 |
| Diseases | Hutchinson-Gilford Progeria, Emery-Dreifuss Muscular Dystrophy, ALS, Parkinson's Disease |
| Expression | Universal (all cell types) |
Lmna Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
LMNA (Lamin A/C) is a gene located on chromosome 1q22 that encodes Lamin A and Lamin C, nuclear intermediate filament proteins that form the nuclear lamina. The LMNA gene is essential for nuclear structure and function, and mutations cause several rare genetic disorders including Hutchinson-Gilford Progeria Syndrome (HGPS) and Emery-Dreifuss muscular dystrophy [Citation 1]. Recent research has implicated lamin dysfunction in the pathogenesis of neurodegenerative diseases including ALS and Parkinson's disease through mechanisms involving nuclear envelope abnormalities, impaired nucleocytoplasmic transport, and transcriptional dysregulation [Citation 2][Citation 3].
The nuclear lamina is a meshwork of intermediate filament proteins located beneath the inner nuclear membrane. Lamin A and Lamin C are alternatively spliced isoforms encoded by the LMNA gene, with Lamin A being the longer isoform (664 amino acids) and Lamin C being the shorter isoform (572 amino acids). Both proteins contain a central alpha-helical rod domain flanked by non-helical N-terminal head and C-terminal tail domains [Citation 4].
Lamin A/C proteins form the nuclear lamina, a meshwork of intermediate filaments that provides structural support to the nucleus. The nuclear lamina is essential for:
Lamin A undergoes a unique post-translational processing pathway involving:
This processing is crucial for proper lamin function, and defects cause progeroid syndromes [Citation 5].
LMNA is expressed in virtually all somatic cell types, with highest expression in tissues undergoing mechanical stress including muscle, cardiac tissue, and neurons. The protein localizes to the nuclear envelope where it interacts with nuclear pore complexes and chromatin [Citation 6].
The most common LMNA mutation (c.1824C>T, p.G608G) creates a cryptic splice site leading to a truncated form of Lamin A called progerin. Progerin accumulates in cells and causes premature aging phenotypes including cardiovascular disease, alopecia, and neurodegeneration. Progerin has been detected in brain tissue from aged individuals and may contribute to age-related cognitive decline [Citation 7].
LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) characterized by:
Emerging evidence links LMNA to ALS pathogenesis:
Studies have found:
LMNA-related pathways are being explored as therapeutic targets:
The study of Lmna Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page updated: 2026-03-05