A mitochondrial DNA sequencing validation summary can be beneficial when determining if a mitochondrial DNA change is associated with a medical conditions or disorder. The following medical conditions and disorders are associated with a change in mitochondrial DNA structure:
Cancer: Certain types of cancer, such as breast cancer, stomach cancer, kidney tumors, colon cancer, liver cancer, lymphoma, and leukemia, may occur as a result of a somatic (noninherited) mitochondrial DNA mutation.
Cyclic vomiting syndrome: Genetic changes in mitochondrial DNA are likely related to this condition.
Leber hereditary optic neuropathy: Certain mitochondrial gene mutations have been identified in those with this condition. Four mutations will be present.
Mitochondrial encephalomyopathy/stroke-like episodes/lactic acidosis: Certain mitochondrial gene mutations have been identified in those with this disorder. At least five mutations must be present.
Myoclonic epilepsy with ragged red fibers: Certain mitochondrial gene mutations have been identified in those with this disorder. At least four mutations must be present.
Neuropathy/retinitis pigmentosa/ataxia: Certain mitochondrial gene mutations have been identified in those with this disorder. One gene will be mutated.
Nonsyndromic deafness: Certain mitochondrial gene mutations have been identified in those with this disorder. Two mutations will be present.
Other disorders that may be associated with mitochondrial DNA changes include diabetes, vision and eye abnormalities, muscle wasting and weakness, hearing loss, movement problems, dementia, heart disease, kidney failure, Parkinson's disease, and Alzheimer's disease.
