By William J. Craigen (auth.), Lee-Jun C. Wong, Ph.D. (eds.)
Due to the complexity of the mitochondrial process and the myriad genes all for their functionality, the medical manifestations of mitochondrial ailments are remarkably variable and heterogeneous. The laboratory and medical methodologies used to guage disorder might fluctuate greatly, and thusly a scientific presentation of the various protocols which are utilized to the evaluate of those clinically and genetically heterogeneous problems has confirmed to be crucial. Mitochondrial issues: Biochemical and Molecular Analysis strives to fill this want with a set of key protocols supplied by way of best specialists within the box. starting with overviews of complexity of mitochondrial and nuclear genome problems, the ebook maintains with a bit dedicated to present biochemical protocols and a component curious about the DNA-based ways used to spot molecular defects. Written within the hugely profitable Methods in Molecular Biology™ sequence structure, chapters comprise introductions to their respective issues, lists of the required fabrics and reagents, step by step, without problems reproducible laboratory protocols, and pointers on troubleshooting and fending off recognized pitfalls.
Detailed and authoritative, Mitochondrial issues: Biochemical and Molecular Analysis serves as an essential consultant to researchers looking to comprehend this particularly advanced form of breakdown in mobile biology.
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Additional info for Mitochondrial Disorders: Biochemical and Molecular Analysis
And Vu, T. H. (2002) Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA, Neurology 59, 1197–1202. , De Vivo, D. , and DiMauro, S. (2006) Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene, Arch Neurol 63, 1122–1126. , Jais, J. , and Rotig, A. (2007) Mutation of RRM2B, encoding p53controlled ribonucleotide reductase (p53R2), 68. 69. 70. 71. 72. 73. 74. 75. 76. 77. causes severe mitochondrial DNA depletion, Nat Genet 39, 776–780.
The clinical phenotype of patients with SUCLA2 mutations includes early childhood hypotonia, developmental delay, dystonia, and sensorineural hearing loss (71). A founder mutation has been found in the Faroe Islands (71). SUCLG1 mutations have been reported in fewer families associated with neonatal metabolic crises and early death; however, the clinical severity may correlate with the residual activity of the protein (72). TP gene encodes thymidine phosphorylase (73). Deficiency of thymidine phosphorylase causes mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
And Zeviani, M. (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes, J Inherit Metab Dis 32, 143–158. Hakonen, A. , Spelbrink, J. , and Suomalainen, A. (2008) Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion, Hum Mol Genet 17, 3822–3835. , and Zeviani, M. (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk, J Intern Med 265, 174–192. , and Wong, L.
Mitochondrial Disorders: Biochemical and Molecular Analysis by William J. Craigen (auth.), Lee-Jun C. Wong, Ph.D. (eds.)