View Only- Nuances of Mitochondrial Testing-Reference Material

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The document references several studies and articles related to mitochondrial testing and mitochondrial diseases. <br /><br />One study by Horvath et al. (2009) explores the molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. The researchers investigate the genetic and biochemical mechanisms underlying this disease. <br /><br />Boczonadi et al. (2015) discuss reversible infantile mitochondrial diseases. The authors provide an overview of these conditions, highlighting the clinical features and diagnostic challenges involved. <br /><br />Zaganelli et al. (2017) focus on the role of the pseudouridine synthase RPUSD4 in mitochondrial RNA granules. The study explores the essential component of these granules and its impact on mitochondrial RNA regulation. <br /><br />Lecointe et al. (2002) investigate the absence of pseudouridine 38/39 in the anticodon arm of yeast cytoplasmic tRNA and its effect on in vivo recoding efficiency. The authors explore the role of pseudouridine in tRNA function. <br /><br />Guan et al. (2006) examine the impact of a mutation in the TRMU gene on transfer RNA modification and its influence on the phenotypic expression of deafness-associated mitochondrial 12S ribosomal RNA mutations. The study sheds light on the complex relationship between mitochondrial gene mutations and deafness. <br /><br />Roos et al. (2013) describe a case of mitochondrial encephalomyopathy caused by a novel mitochondrial tRNA Arg mutation resulting in an anticodon swap. The authors discuss the rare genetic mutation and its implications for mitochondrial diseases. <br /><br />White et al. (1999) focus on genetic counseling and prenatal diagnosis for mitochondrial DNA mutations at nucleotide 8993. The authors highlight the importance of accurate diagnosis and counseling for families at risk of mitochondrial diseases.

Keywords

mitochondrial testing

mitochondrial diseases

Horvath et al. 2009

reversible infantile mitochondrial diseases

Zaganelli et al. 2017

pseudouridine synthase RPUSD4

Lecointe et al. 2002

pseudouridine 38/39

Guan et al. 2006

TRMU gene mutation