Diseases/Disorders Related to Mitochondria

Monday, May 4, 2009 ·

Aftermaths of Mutations or Damage to Mitochondria

Any damage to mitochondria can cause a wide range of disorders which mostly present as neurological disorders. Its improper functioning lead to energy break down which causes poor coordinations, sensory poblems and reduced mental activity etc. Errors in cellular information processing are responsible for diseases such as cancer, autoimmunity and diabetes.

Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome and MELAS syndrome. Mostly these diseases are transmitted by mother as the zygote derives its mitochondria and its mtDNA from the ovum. Large-scale mtDNA mutations can cause Kearns-Sayre syndrome, Pearson's syndrome and progressive external ophthalmoplegia while MELAS syndrome, Leber's hereditary optic neuropathy, myoclonic epilepsy with ragged red fibers are the outcome of small-scale or point mutations in mtDNA.

Environmental factors may also influence mitochondrial disease. Influence of pesticide exposure on Parkinson's disease is an example of environmental influences.

Aging process also lead to a number of changes in mitochondria. Tissues of elderly patients show a decreased enzymatic activity. Even large deletions in the mitochondrial genome can lead to high levels of oxidative stress and neuronal death in Parkinson's disease. Hypothesized links between aging and oxidative stress show their symptoms after the age of 50 years.

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