Congenital myopathy is caused by mutation of HACD1
| العنوان: | Congenital myopathy is caused by mutation of HACD1 |
|---|---|
| المؤلفون: | Miriam Regev, Emad Muhammad, Orit Reish, Yusuke Ohno, Todd E. Scheetz, Lilach Benyamini, Yakov Fellig, Ruti Parvari, Val C. Sheffield, Charles Searby, Adam P. DeLuca, Akio Kihara |
| المصدر: | Human Molecular Genetics |
| بيانات النشر: | Oxford University Press, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Adult, Male, Adolescent, Genetic Linkage, Coenzyme A, RNA Stability, Consanguinity, Biology, chemistry.chemical_compound, Muscular Diseases, Genetic linkage, Genetics, medicine, Humans, Exome, Amino Acid Sequence, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Fatty Acids, Homozygote, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Articles, medicine.disease, Congenital myopathy, Pedigree, chemistry, Dehydratase, Child, Preschool, Mutation (genetic algorithm), Mutation, Female, Protein Tyrosine Phosphatases, Myopathies, Structural, Congenital |
| الوصف: | Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function. |
| اللغة: | English |
| تدمد: | 1460-2083 0964-6906 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487fafe384199f2dceb9efd2327d044fTest http://europepmc.org/articles/PMC3842179Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....487fafe384199f2dceb9efd2327d044f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14602083 09646906 |
|---|