mitochondrial DNA diseases

Diseases caused by mutations in MITOCHONDRIAL DNA (mtDNA) or by nuclear DNA mutations affecting components in mitochondrial processes. Because both mitochondrial and nuclear genes may be involved, inheritance may be maternal or Mendelian. They are all rare. Pure mitochondrial diseases caused by point mutations include LEBER'S HEREDITARY OPTIC NEUROPATHY; RAGGED RED FIBRES; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS); and neurogenic weakness with ataxia and RETINITIS PIGMENTOSA (NARP). Major rearrangements of mitochondrial DNA cause the KEARNS-SAYRE PHENOTYPE; chronic progressive external ophthalmoplegia; PEARSON'S SYNDROME; and excessive ageing.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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References in periodicals archive

The next step in their research is to recruit families who are carriers of early-onset mitochondrial DNA diseases who have had at least one affected child, recruit healthy egg donors, and then perform the procedure, followed by preimplantation genetic diagnosis of the embryo and / or prenatal diagnosis to "ensure complete mitochondrial DNA replacement and chromosomal normalcy," he said.

FDA panel considers human studies of modified oocytes: to prevent mitochondrial disease, the agency is considering Leigh's disease and MELAS

Mitochondrial DNA diseases offer distinct challenges to scientists and clinicians because we inherit our mitochondrial DNA in a different manner to our chromosomal genes.

Three-Parent-IVF: Experimenting with Life

"In theory, this research has demonstrated that it is possible to use this therapy in mothers carrying mitochondrial DNA diseases so that we can prevent those diseases from being passed on to their offspring," Mitalipov said.

Gene breakthrough could banish inherited diseases

Dr Herbert said: "The need for research into techniques to prevent transmission of mitochondrial DNA diseases has been highlighted in the Donaldson Report into stemcell research in 2000 and in the House of Lords in 2002.

Third parent aim in disease battle

Human mitochondrial DNA diseases. Adv Drug Deliv Rev.

The postgenomic era: implications for the clinical laboratory. (Advances in the Science of Pathology)

Mitochondrial DNA diseases, however, tend to affect nonreplicating tissues, such as brain and muscle.

Mitochondrial DNA-related mitochondrial dysfunction in neurodegenerative disease. (Advances in the Science of Pathology)

Diagnostic evaluation of a patient suspected of having mitochondrial DNA disease usually begins with a biochemical evaluation.

Mitochondrial disorders: a clinician's primer. (Clinical Practice)