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Review
. 2024 May 31;25(11):6062.
doi: 10.3390/ijms25116062.

The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions

Annamaria Cerantonio  1 , Luigi Citrigno  1 , Beatrice Maria Greco  1   2 , Selene De Benedittis  1 , Giuseppe Passarino  2 , Raffaele Maletta  3   4 , Antonio Qualtieri  1 , Alberto Montesanto  2 , Patrizia Spadafora  1 , Francesca Cavalcanti  1
Affiliations
Review

The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions

Annamaria Cerantonio et al. Int J Mol Sci. .

Abstract

Neurodegenerative diseases are progressive disorders that affect the central nervous system (CNS) and represent the major cause of premature death in the elderly. One of the possible determinants of neurodegeneration is the change in mitochondrial function and content. Altered levels of mitochondrial DNA copy number (mtDNA-CN) in biological fluids have been reported during both the early stages and progression of the diseases. In patients affected by neurodegenerative diseases, changes in mtDNA-CN levels appear to correlate with mitochondrial dysfunction, cognitive decline, disease progression, and ultimately therapeutic interventions. In this review, we report the main results published up to April 2024, regarding the evaluation of mtDNA-CN levels in blood samples from patients affected by Alzheimer's (AD), Parkinson's (PD), and Huntington's diseases (HD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS). The aim is to show a probable link between mtDNA-CN changes and neurodegenerative disorders. Understanding the causes underlying this association could provide useful information on the molecular mechanisms involved in neurodegeneration and offer the development of new diagnostic approaches and therapeutic interventions.

Keywords: mitochondrial DNA copy number; mitochondrial function; neurodegenerative diseases.

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Conflict of interest statement

The authors declare no conflicts of interest.

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