Author Response: Increased mtDNA Copy Number Protects Against LHON

Bianco, Angelica; Palese, Luigi Leonardo; Guerriero, Silvana; Petruzzella, Vittoria

doi:10.1167/iovs.17-22822

Cited by 1 publication

(1 citation statement)

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“…The ubiquity of mitochondria in all nucleated cells can effectuate its deregulation in several tissues with common features, such as neurological, gastrointestinal, cardiac, respiratory, endocrinal, ophthalmological, and so on (Taylor and Turnbull, 2005). Mutations in mtDNA, proteins, and impaired mitochondrial functions have been implicated in the neurodegenerative diseases (Alzheimer and Parkinson), stroke, traumatic brain injury, cardiomyopathy, metabolic disorders (diabetes and obesity), maternally inherited diabetes and deafness, Leber's hereditary optic neuropathy, and other diseases (Brown et al, 2002;Bianco et al, 2018;Chang et al, 2019). The implication of mtDNA mutations on metabolic and physiological disorders are given in Table 3.…”

Section: Mtdna Mutation In Metabolic and Physiological Disordersmentioning

confidence: 99%

Deregulated Mitochondrial DNA in Diseases

Nguyen

Kim

2020

DNA and Cell Biology

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Mitochondria play various important roles in energy production, metabolism, and apoptosis. Mitochondrial dysfunction caused by alterations in mitochondrial DNA (mtDNA) can lead to the initiation and progression of cancers and other diseases. These alterations include mutations and copy number variations. Especially, the mutations in D-loop, MT-ND1, and MT-ND5 affect mitochondrial functions and are widely detected in various cancers. Meanwhile, several other mutations have been correlated with muscular and neuronal diseases, especially MT-TL1 is deeply related. These pieces of evidence indicated mtDNA alterations in diseases show potential as a novel therapeutic target. mtDNA repair enzymes are the target for delaying or stalling the mtDNA damage-induced cancer progression and metastasis. Moreover, some mutations reveal a prognosis ability of the drug resistance. Current efforts aim to develop mitochondrial transplantation technique as a direct cure for deregulated mitochondria-associated diseases. This review summarizes the implications of mitochondrial dysfunction in cancers and other pathologies; and discusses the relevance of mitochondria-targeted therapies, along with their contribution as potential biomarkers.

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