Mitochondrial myopathies

  title={Mitochondrial myopathies},
  author={Massimo Zeviani and Patrizia Amati and Anna Savoia},
  journal={Current Opinion in Rheumatology},
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… 
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations
The rationale for exercise testing of patients with MM due to mutations in mtDNA is presented, the diagnostic yield of exercise tests for MM is evaluated and how exercise tests can be used as tools for follow-up to assess disease course or effects of treatment interventions is touched upon.
Mutations in mitochondrial DNA and approaches for their correction
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.
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.
RAS signalling in energy metabolism and rare human diseases.
Mitochondria and Heart Disease
This chapter addresses the recent studies of the role and the mechanism of mitochondria in the development of heart disease, and the progress in clinical diagnosis and treatments on a mitochondrial basis.
Cardiovascular Outcomes in Patients With Mitochondrial Disease in the United States: A Propensity Score Analysis.
It is suggested that mitochondrial disease significantly increases the risk of inpatient major adverse cardiovascular events, including all-cause in-hospital death, cardiac arrest, and acute congestive heart failure.
The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia
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.
Diseases Associated with Defects in tRNA CCA Addition
The current state of knowledge of the TRNT1 function and the phenotypes associated with mutations in TRNT2 are described, suggesting a broad, pleiotropic impact of imparting TR NT1 function on diverse cellular systems.
Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain
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.


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 the first documentation of a pathogenic mutation in a CoQ10 synthetic gene and proof of principle for the existence of primary CoQ10 deficiency
        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 paper confirms in three unrelated patients the existence of a variant of apparently primary CoQ10 deficiency associated with pure myopathy
            This is one of two back-to-back papers illustrating the wide phenotypic spectrum associated with POLG mutations
              This paper describes mutations in MPV17, a gene encoding a protein of the inner mitochondrial membrane, which, when mutated, causes hepatocerebral mtDNA depletion