mitochondriopathies

mitochondriopathies

certain degenerative DISEASES, notably those affecting the MUSCLES and NERVOUS SYSTEM, in which MITOCHONDRIAL DNA and its products are involved. It has also been proposed that mitochondrial DNA may be a target for mutation in the ageing process.
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Mitochondrial disorders also known as mitochondriopathies (MCPs) can be either syndromic or nonsyndromic and can present at any age, affect any organ, and have broad symptomatology [9].
It has also been found effective in some neurodegenerative diseases and mitochondriopathies, which might involve mitochondrial impairment.[sup][11] As previously mentioned, ALS could be caused by an energy imbalance, which is a common phenomenon in SOD1 transgenic mice as well as ALS patients.
All patients with genetic leukoencephalopathies and demyelinating disorders such as leukodystrophies, aminoacidurias, and mitochondriopathies have been excluded.
It should be noted, however, that most metabolic diseases are associated with abnormally increased rather than decreased concentrations of amino acids in blood, e.g., phenylketonuria and hyper-phenylalaninemias (increased F); maple syrup urine disease (increased aIle); lactic acidosis, pyruvate metabolisms disorders and in mitochondriopathies (increased alanine); or propionic and methylmalonic acidemias (increased G).
Several p.MT-ATP6 TMH4 and 5 amino acids from the CV proton channel are mutated in patients suffering from different mitochondriopathies (Lopez-Gallardo et al.
There are several types of primary cardiomyopathies: arrhythmogenic right ventricular dysplasia, dilated (congestive) CMP, hypertrophic CMP, specific CMP (metabolic, inflammatory, ischemic, cirrhotic, etc.), and unclassified CMP (fibroelastosis, noncompaction cardiomyopathy (spongiform cardiomyopathy), mitochondriopathies, etc.).
We could go further and call these conditions mitochondriopathies, as recent, concurring research has indicated that dysfunctional mitochondria may lie at the center of these and other complex illnesses, such as autism, Alzheimer's, and Parkinson's disease.
Further diagnostic work up for mitochondriopathies (muscle/ liver/ skin biopsy, enzyme analysis and DNA studies) could not be done.
Variation in retinal changes and muscle pathology in mitochondriopathies. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie.
That is the case with the mitochondriopathies, diseases that may affect one or more cell types and manifest as syndromic or nonsyndromic disorders.
In other cases, however, such as the taupathies, mitochondriopathies, CADASIL, X-Linked Adrenoleukodystrophy, etc.
"Ocular muscle dysfunction has been described in primary mitochondriopathies, and hepatic mitochondrial dysfunction has also been described in fatty liver disease.

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