LMNA
The LMNA gene, vital for cell nucleus structure, is linked to various disorders including premature aging and muscular dystrophy
Associated Diseases
Dilated Cardiomyopathy, Muscular Dystrophy. Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2 autosomal dominant, Emery-Dreifuss muscular dystrophy 3,autosomal recessive, Heart-hand syndrome Slovenian type, Hutchinson-Gilford progeria, Lipodystrophy familial partial type 2, Malouf syndrome, Mandibuloacral dysplasia
Did you know
The LMNA gene, also known as lamin A/C gene, encodes proteins crucial for maintaining the structural integrity of the cell nucleus. Mutations in LMNA can lead to laminopathies, a group of disorders affecting various tissues and organs. These include Hutchinson-Gilford progeria syndrome (HGPS), characterized by premature aging, and Emery-Dreifuss muscular dystrophy (EDMD), affecting muscle function. Additionally, LMNA mutations have been associated with heart conditions and lipodystrophies. Understanding the LMNA gene‘s function is essential for diagnosing and managing laminopathies and related conditions. Research on LMNA provides insights into cellular mechanisms and potential treatments for these disorders, offering hope for improved outcomes for affected individuals.
