Significance of Mitochondrial disease
Mitochondrial disease is a collection of disorders stemming from dysfunctional mitochondria, primarily due to genetic mutations that impair cellular energy production. These diseases can complicate physical health and feature a coexistence of both wild-type and mutant maternal alleles within cells. Additionally, mutations in nuclear DNA that encode mitochondrial proteins lead to a variety of conditions, including neoplastic, neuropathic, degenerative, and metabolic disorders, impacting various bodily systems.
Synonyms: Mitochondrial disorder, Mitochondrial dysfunction
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The concept of Mitochondrial disease in scientific sources
Mitochondrial disease encompasses a range of disorders linked to faulty mitochondria, primarily due to genetic mutations that impair cellular energy production, significantly impacting overall health and bodily functions.
From: The Malaysian Journal of Medical Sciences
(1) Diseases caused by nDNA mutations that code for mitochondrial proteins include neoplastic, neuropathic, degenerative, metabolic, and other systemic disorders, which can affect various systems.[1] (2) In many mitochondrial diseases, however, since the number of copies of mitochondria within a particular cell is high, wild-type and mutant maternal alleles coexist.[2]