Heart to Heart: From Nuclear Proteins to Emery-Dreifuss Muscular Dystrophy

• Published in: Human molecular genetics Vol. 8; no. 10; pp. 1847 - 1851
• Main Authors: Morris, Glenn E., Manilal, Sushila
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.01.1999; Oxford Publishing Limited (England)
• Subjects: Biological and medical sciences; Bone and Bones - pathology; Bone and Bones - physiopathology; Diseases of striated muscles. Neuromuscular diseases; Heart - physiopathology; Humans; Lamin Type A; Lamins; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - metabolism; Muscular Dystrophy, Emery-Dreifuss - genetics; Muscular Dystrophy, Emery-Dreifuss - metabolism; Muscular Dystrophy, Emery-Dreifuss - pathology; Muscular Dystrophy, Emery-Dreifuss - physiopathology; Mutation - genetics; Neurology; Nuclear Envelope - chemistry; Nuclear Envelope - metabolism; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Thymopoietins - genetics; Thymopoietins - metabolism; Human; Lamin; Neuromuscular diseases; Membrane protein; Nervous system diseases; Cell function; Review; Nuclear envelope; Genetic disease; Emery Dreifuss muscular dystrophy; Gene; Emerin; Genetics; Mutation; Nuclear protein
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/8.10.1847

Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questions are the subject of this review.