Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
| Autor: | Gilles Carnac, Catherine Bisbal, Claude Desnuelle, Sandrine Bouillot, Dalila Laoudj-Chenivesse, Gérald Hugon, Anne Fernandez, Yegor S. Vassetzky |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Proteomics musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Time Factors Adolescent Biopsy Duchenne muscular dystrophy Peptide Mapping Adenine Nucleotide Translocator 1 DUX4 Adenine nucleotide Internal medicine Drug Discovery medicine Humans Facioscapulohumeral muscular dystrophy Electrophoresis Gel Two-Dimensional Muscular dystrophy Gene Heat-Shock Proteins Genetics (clinical) Aged Genetics biology Adenine nucleotide translocator Middle Aged medicine.disease Muscular Dystrophy Facioscapulohumeral Oxidative Stress Endocrinology biology.protein Molecular Medicine Female Lipid Peroxidation |
| Zdroj: | Journal of Molecular Medicine. 83:216-224 |
| ISSN: | 1432-1440 0946-2716 |
| DOI: | 10.1007/s00109-004-0583-7 |
| Popis: | Facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant neuromuscular disorder, has been causally related to deletion of tandemly arrayed 3.3 kb repeats (D4Z4) on chromosome 4q35. Although increased expression of several 4q35 genes has been reported, two recent studies dispute this, finding no significant changes in the transcriptional level of any of the 4q35 genes, among which is the heart and muscle-specific isoform of the adenine nucleotide translocator (ANT1). We found markedly increased levels of ANT1 protein in both unaffected and affected FSHD muscles in comparison to control healthy muscles. Comparative protein expression analysis between healthy, Duchenne muscular dystrophy, and FSHD muscle shows that proteins involved in mitochondrial function and protection from oxidative stress are also reproducibly and specifically modified in all FSHD muscles, including clinically unaffected muscles. Increased ANT1 expression and mitochondrial dysfunction may thus be initial events in FSHD pathogenesis and represent potential therapeutic targets. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink