Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy

Neuromuscular Disorders

Volumn 21, Issue 2, 2011, Pages 115-120

  Kollberg, Gittan ^a   Melberg, Atle ^b   Holme, Elisabeth ^a   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

ISCU; Mitochondria; Muscle regeneration; Succinate dehydrogenase deficiency

Indexed keywords

IRON; IRON SULFUR CLUSTER ASSEMBLY PROTEIN; IRON SULFUR PROTEIN; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; HUMAN; HUMAN TISSUE; IRON METABOLISM; IRON SULFUR CLUSTER DEFICIENCY MYOPATHY; MUSCLE BIOPSY; MUSCLE REGENERATION; MUSCLE WEAKNESS; MYOPATHY; NUCLEIC ACID BASE SUBSTITUTION; NUTRITIONAL DEFICIENCY; PRIORITY JOURNAL; RHABDOMYOLYSIS; RNA SPLICING; TISSUE LEVEL;

AGED; BIOPSY; DEFICIENCY DISEASES; FEMALE; HUMANS; INTRONS; IRON-SULFUR PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; RHABDOMYOLYSIS; SUCCINATE DEHYDROGENASE;

EID: 78751575346     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.010     Document Type: Article

References (11)

1. Mochel F., Knight M.A., Tong W.H., et al. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet 2008, 82:652-660.
2. Olsson A., Lind L., Thornell L.E., Holmberg M. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. Hum Mol Genet 2008, 17:1666-1672.
3. Kollberg G., Tulinius M., Melberg A., et al. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. Brain 2009, 132:2170-2179.
4. Rouault T.A., Tong W.H. Iron-sulfur cluster biogenesis and human disease. Trends Genet 2008, 24:398-407.
5. Larsson L.E., Linderholm H., Müller R., Ringqvist T., Sörnäs R. Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis. J Neurol Neurosurg Psychiatry 1964, 27:361-380.
6. Linderholm H., Müller R., Ringqvist T., Sörnäs R. Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise. Acta Med Scand 1969, 185:153-166.
7. Tulinius M., Holme E., Kristiansson B., Larsson N.-G., Oldfors A. Mitochondrial encephalomyopathies in children. I. Biochemical and morphological investigations. J Pediatr 1991, 119:242-250.
8. Stevens A. Pigments and minerals. Theory and practice of histological techniques 2000, 245-267. Churchill Livingstone, Edinburgh. J.D. Bancroft, A. Stevens (Eds.).
9. Sanaker P.S., Toompuu M., Hogan V.E., et al. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochim Biophys Acta 2010, 1802:539-544.
10. Kollberg G., Holme E. Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy. Neuromuscul Disord 2009, 19:833-836.
11. van Deutekom J.C., Janson A.A., Ginjaar I.B., et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007, 357:2677-2686.