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European Journal of Pediatrics, 2000
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Neuroimaging of mitochondrial disorders
Mitochondrion, 2004Mitochondrial disease is frequently a multisystem disorder which often involves the central nervous system. Imaging finding although diverse are characterized by focal lesions with T2 hyperintensity, which may be most evident on FLAIR imaging and often progress to atrophy.
Richard, Haas, Rosalind, Dietrich
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Mitochondrial Disorders: An Overview
Journal of Bioenergetics and Biomembranes, 1997The past few years have seen extraordinary advances in our understanding of mitochondrial involvement in human pathology, and this has been reflected in the proliferation of reviews covering this topic. In this issue, which should prove complementary to others in this area, topics have been selected to cover regions of mitochondrial research in which ...
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Treatment for mitochondrial disorders
2006Mitochondrial respiratory chain disorders are the most prevalent group of inherited neurometabolic diseases. They present with central and peripheral neurological features usually in association with other organ involvement including the eye, the heart, the liver, and kidneys, diabetes mellitus and sensorineural deafness.
P, Chinnery +3 more
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Treatment of mitochondrial disorders
European Journal of Paediatric Neurology, 2010Treatment of mitochondrial disorders (MIDs) is a challenge since there is only symptomatic therapy available and since only few randomized and controlled studies have been carried out, which demonstrate an effect of some of the symptomatic or supportive measures available.
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Mitochondrial disorders and ataxia
Seminars in Pediatric Neurology, 2003Mitochondrial disorders are important causes of progressive ataxia in children. Clinical examination, metabolic studies, imaging studies, muscle biopsies, and mitochondrial DNA studies are required to arrive at a specific diagnosis. There is poor correlation between phenotype and genotype in mitochondrial disorders.
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Dominance in mitochondrial disorders
Journal of Inherited Metabolic Disease, 2005SummaryDominant traits are rare in mitochondrial disorders but include important nosological entities such as alterations of organellar biogenesis and abnormalities in the structural integrity of the mitochondrial genome, determined by mutations in genes involved in its maintenance and propagation.
Zeviani M., CARELLI, VALERIO
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Neuroimaging in mitochondrial disorders
Essays in Biochemistry, 2018MRI and 1H magnetic resonance spectroscopy (1HMRS) are the main neuroimaging methods to study mitochondrial diseases. MRI can demonstrate seven ‘elementary’ central nervous system (CNS) abnormalities in these disorders, including diffuse cerebellar atrophy, cerebral atrophy, symmetric signal changes in subcortical structures (basal ganglia, brainstem ...
Masclachi M, Montomoli M, Guerrini R
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Ataxia in mitochondrial disorders
2012Mitochondria are subcellular organelles whose major function is to generate energy by coupling through oxidation of nutrient substrates with ATP synthesis, via ADP phosphorylation. This process, known as oxidative phosphorylation, is carried out by the mitochondrial respiratory chain, a pathway consisting of five multi-subunit complexes, four of which ...
Zeviani M., Simonati A., Bindoff L. A.
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Inherited Mitochondrial Disorders
2011Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
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