Mitochondrial Disorders: Biochemical and Molecular Analysis by William J. Craigen (auth.), Lee-Jun C. Wong, Ph.D. (eds.)

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By William J. Craigen (auth.), Lee-Jun C. Wong, Ph.D. (eds.)

Due to the complexity of the mitochondrial approach and the myriad genes excited by their functionality, the scientific manifestations of mitochondrial illnesses are remarkably variable and heterogeneous. The laboratory and medical methodologies used to guage disorder might differ largely, and thusly a scientific presentation of the varied protocols which are utilized to the review 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 via major specialists within the box. starting with overviews of complexity of mitochondrial and nuclear genome problems, the ebook keeps with a piece dedicated to present biochemical protocols and a component interested by the DNA-based techniques used to spot molecular defects. Written within the hugely profitable Methods in Molecular Biology™ sequence structure, chapters comprise introductions to their respective subject matters, lists of the mandatory fabrics and reagents, step by step, with ease reproducible laboratory protocols, and tips about troubleshooting and heading off recognized pitfalls.

Detailed and authoritative, Mitochondrial problems: Biochemical and Molecular Analysis serves as an important advisor to researchers trying to comprehend this enormously advanced kind of breakdown in mobile biology.

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Extra resources for Mitochondrial Disorders: Biochemical and Molecular Analysis

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2 5. Defects in Genes Involved in Mitochondrial Protein Synthesis Mendelian Mitochondrial Disorders 25 Another category of mitochondrial cytopathies may be caused by nuclear gene mutations deranging mitochondrial protein synthesis disorders without loss of mtDNA integrity. These defects involve nuclear genes encoding proteins that mediate mitochondrial protein synthesis (transfer RNA modification, initiation, elongation, and termination factors, ribosomal proteins, and aminoacyl-transfer RNA synthetases) (76).

In this syndrome, the altered balance of intramitochondrial dNTP pool leads to multiple mtDNA deletions and mtDNA depletion (54). Elevated plasma thymidine and deoxyuridine values are a useful first screening tool if the diagnosis is suspected (74). Although the muscle histology may reveal ragged red fibers and COX deficient fibers, normal muscle histology should not preclude the consideration of this diagnosis (75). 2 5. Defects in Genes Involved in Mitochondrial Protein Synthesis Mendelian Mitochondrial Disorders 25 Another category of mitochondrial cytopathies may be caused by nuclear gene mutations deranging mitochondrial protein synthesis disorders without loss of mtDNA integrity.

The majority of patients exhibit mutations in SUCLA2. 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).

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