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Mitochondrial respiratory-chain diseases.
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause…
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
- S. Pavlakis, P. Phillips, S. Dimauro, D. D. De Vivo, L. Rowland
- Medicine, PsychologyAnnals of neurology
- 1 October 1984
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.
The genetics and pathology of oxidative phosphorylation
The mitochondrial oxidative phosphorylation system is the final biochemical pathway in the production of ATP and improvements in this arena have profited from progress in various genome projects, as well as improvements in the ability to create relevant animal models.
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
target NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease suggests that next-generation sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile mitochondrial disease.
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cy tochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane and mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency are identified.
Mitochondrial disorders in the nervous system.
Altered mitochondrial dynamics in the etiology of specific neurological diseases and in the physiopathology of more common neurodegenerative disorders are reviewed.
Human mitochondrial DNA: roles of inherited and somatic mutations
Insight into the roles of mtDNA mutations in a wide variety of diseases is discussed, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
It is concluded that primary LAMP-2 deficiency is the cause of Danon disease and this is the first example of human cardiopathy–myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein.
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
It is concluded that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function, however, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined.