Mitochondrial cytopathy in adults: what we know so far.

@article{Cohen2001MitochondrialCI,
  title={Mitochondrial cytopathy in adults: what we know so far.},
  author={Bruce H Cohen and Deborah Rukin Gold},
  journal={Cleveland Clinic journal of medicine},
  year={2001},
  volume={68 7},
  pages={
          625-6, 629-42
        }
}
  • B. Cohen, D. R. Gold
  • Published 1 July 2001
  • Medicine, Biology
  • Cleveland Clinic journal of medicine
Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; these include hyperthyroidism, hypothyroidism, and hyperlipidemia. 

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References

SHOWING 1-10 OF 71 REFERENCES

Oxidative Phosphorylation Diseases

The mitochondrial cytopathies are a heterogeneous group of diseases associated with defects in mitochondrial ATP production that affect the brain, skeletal muscle, heart, kidney, and liver.

Mitochondrial myopathy diagnosis.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

TLDR
It is believed that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns‐Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome.

Mitochondrial diseases in man and mouse.

TLDR
The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology.

Respiratory chain encephalomyopathies: a diagnostic classification.

TLDR
A system is developed that allows classification of the diagnosis of RC encephalomyopathy in possible, probable and definite categories of certainty, which will be of value to the clinician.

Mitochondrial deafness.

TLDR
The spectrum of different mitochondrial mutations associated with hearing impairment suggests that the pathogenic process involves the accumulation of abnormal translation products inside mitochondria, in sensitive cells of the auditory system, which leads to a prediction of the involvement of a novel class of nuclear genes in hearing impairment, namely those with roles in 'mitochondrial protein quality control'.

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

TLDR
Examination of 12 MNGIE probands revealed homozygous or compound-heterozygous mutations in the gene specifying thymidine phosphorylase (TP), indicating that loss-of-function mutations in TP cause the disease.

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

TLDR
An A-to-G transition mutation at nucleotide pair 3,243 in the dihydrouridine loop of mitochondrial tRNALeu(UUR) that is specific to patients with MELAS is reported, which creates an Apal restriction site and could perform a simple molecular diagnostic test for the disease.

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

TLDR
This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
...