Mitochondrial myopathies

@article{Zeviani1985MitochondrialM,
  title={Mitochondrial myopathies},
  author={Massimo Zeviani and Patrizia Amati and Anna Savoia},
  journal={Current Opinion in Rheumatology},
  year={1985},
  volume={6},
  pages={559–567}
}
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their posttranslational control. Although no mutations of nuclear-encoded oxidative phosphorylation subunits have been reported so far in humans… 
Mutations in mitochondrial DNA and approaches for their correction
TLDR
This review of existing data about mitochondrial DNA mutations and their relations to clinical symptoms is summarized, and also about contemporary gene therapy approaches that have been developed for their suppression.
Defective mitochondrial ATP synthesis in oxyphilic thyroid tumors.
TLDR
Adenosine triphosphate synthesis was significantly lower in all the tumors, compared with controls, suggesting that a coupling defect in oxidative phosphorylation may be a cause of mitochondrial hyperplasia in oxyphilic thyroid tumors.
The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia
TLDR
Patients with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes demonstrated only minor changes in redox state and in the behavior of the mitochondrial respiratory chain, which is easily demonstrated in the most severely affected patients with the fatal infantile form of the disease.
Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain
TLDR
This case differs from previous reports of complex III deficiency in three respects: the patient presented in the neonatal period, the defect was expressed in several tissues, and it was fatal.
Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo31P-MRS in a patient with mitochondrial cytopathy
TLDR
Treatment with lipoate caused a relevant increase in levels of energy available in brain and skeletal muscle during exercise, and indicated a deficit of mitochondrial function in both brain and muscle.
Cerebral Blood Flow in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes
TLDR
The study suggests that the strokelike episodes associated with MELAS are different in origin from ischemic stroke.
Selective detection of mitochondrial malfunction in situ by energy transfer spectroscopy
To establish optical in situ detection of mitochondrial malfunction, non-radiative energy transfer from the coenzyme NADH to the mitochondrial marker rhodamine 123 (R123) was examined. Dual

References

SHOWING 1-7 OF 7 REFERENCES
This is a comprehensive review of muscle involvement in a large cohort of patients with MELAS and the A3243G mutation
This is one of the few direct measurements of CoQ10 concentration in muscle of patients with 'statin myopathy', showing only mild CoQ10 decrease
This is one of two back-to-back papers illustrating the wide phenotypic spectrum associated with POLG mutations
This is the first demonstration that mutations in the gene encoding Polg2, the accessory enzyme of Polg1, can also cause PEO and multiple mtDNA deletions in muscle
This is the first documentation of a pathogenic mutation in a CoQ10 synthetic gene and proof of principle for the existence of primary CoQ10 deficiency
This paper confirms in three unrelated patients the existence of a variant of apparently primary CoQ10 deficiency associated with pure myopathy
This paper describes mutations in MPV17, a gene encoding a protein of the inner mitochondrial membrane, which, when mutated, causes hepatocerebral mtDNA depletion