Clinical aspects of mitochondrial disorders

Münnich, Arnold; Rustin, Pierre; Rötig, Agnès; Chrétien, Dominique; Bonnefont, Jean‐Paul; Nuttin, C.; Cormier, V.; Vassault, Anne; Parvy, P; Bardet, Jean-Marc; Charpentier, C.; Rabier, Daniel; Saudubray, Jean Marie

doi:10.1007/bf01799603

Cited by 131 publications

(53 citation statements)

References 13 publications

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“…Respiratory chain defects are a heterogeneous group of severe disorders in infancy (85,86). They present commonly in the neonatal period (87), later manifestations during adult life based on cellular heteroplasmy are possible.…”

Section: Energy Deficiency Typementioning

confidence: 99%

Impact of selected inborn errors of metabolism on prenatal and neonatal development

Illsinger

2010

IUBMB Life

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SummaryIn general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation. Significant adaptation of mitochondrial/energy-, carbohydrate-, lysosomal-, and amino acid-metabolism occurs during early prenatal and neonatal development. In utero, metabolic environment has an impact on the development of the fetus as well as fetal organ maturation.

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Section: Energy Deficiency Typementioning

confidence: 99%

Impact of selected inborn errors of metabolism on prenatal and neonatal development

Illsinger

2010

IUBMB Life

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“…One of the complications associated with mitochondrial diseases is that they may be caused by mutations in genes from either mtDNA or nDNA, which have distinct genetic characteristics, yet can produce quite similar disease phenotypes (2,7). That is, clinically indistinguishable disorders may be caused by separate mutations in different genes on different genomes.…”

Section: Mutations and Mitochondrial Oxphos Disordersmentioning

confidence: 99%

The adenine nucleotide translocase type 1 (ANT1): A new factor in mitochondrial disease

Sharer

2005

IUBMB Life (International Union of Biochemistry and Molecular B

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Mitochondrial disorders of oxidative phosphorylation (OXPHOS) comprise a growing list of potentially lethal diseases caused by mutations in either mitochondrial (mtDNA) or nuclear DNA (nDNA). Two such conditions, autosomal dominant progressive external ophthalmoplegia (adPEO) and Senger's Syndrome, are associated with dysfunction of the heart and muscle‐specific isoform of the adenine nucleotide translocase (ANT1), a nDNA gene product that facilitates transport of ATP and ADP across the inner mitochondrial membrane. AdPEO is a mtDNA deletion disorder broadly characterized by pathology involving the eyes, skeletal muscle, and central nervous system. In addition to ANT1, mutations in at least two other nuclear genes, twinkle and POLG, have been shown to cause mtDNA destabilization associated with adPEO. Senger's syndrome is an autosomal recessive condition characterized by congenital heart defects, abnormalities of skeletal muscle mitochondria, cataracts, and elevated circulatory levels of lactic acid. This syndrome is associated with severe depletion of ANT1, which may be the result of an as yet unidentified ANT1‐specific transcriptional or translational processing error. ANT1 has also been associated with a third condition, autosomal dominant facioscapulohumeral muscular dystrophy (FSHD), an adult onset disorder characterized by variable muscle weakness in the face, feet, shoulders, and hips. FSHD patients possess specific DNA deletions on chromosome 4, which appear to cause derepression of several nearby genes, including ANT1. Early development of FSHD may involve mitochondrial dysfunction and increased oxidative stress, possibly associated with overexpression of ANT1. IUBMB Life, 57: 607‐614, 2005

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“…The ubiquitous nature of mitochondria, being present in all cells except mature red blood cells, means that any combination of organs may be affected, giving rise to myriad clinical presentations [6]. Indeed, it is increasingly the case that patients with 'classical' mitochondrial disease represent the minority, while the majority of cases do not fit neatly into a recognised syndrome.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial disease—an important cause of end-stage renal failure

Rahman

Hall

2012

Pediatr Nephrol

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Kidneys are highly aerobic organs. They receive roughly a quarter of the cardiac output and contain a high density of mitochondria, particularly in the cortical tubules, which are required to produce adenosine triphosphate (ATP) in sufficient quantity to power the re-uptake of over 98 % of the filtered load. Given the dependence of renal function on aerobic metabolism, it is not surprising that impairment of normal mitochondrial function-due to insults such as ischaemia, drug toxicity and genetic mitochondrial diseasecan lead to kidney failure. In this edition of Pediatric Nephrology, D'Aco and colleagues

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Clinical aspects of mitochondrial disorders

Cited by 131 publications

References 13 publications

Impact of selected inborn errors of metabolism on prenatal and neonatal development

Impact of selected inborn errors of metabolism on prenatal and neonatal development

The adenine nucleotide translocase type 1 (ANT1): A new factor in mitochondrial disease

Mitochondrial disease—an important cause of end-stage renal failure

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