Analysis of mitochondrial DNA allelic changes in Parkinson’s disease: a preliminary study



Mitochondrial DNA (mtDNA) mutations are considered as a possible primary cause of age-associated neurodegenerative disorders like Parkinson’s disease (PD).


To analyze, along the whole mtDNA sequence of PD patients, the presence of non-reference alleles compared to reference alleles, as defined in the revised Cambridge Reference Sequence (rCRS).


mtDNA was extracted from whole blood of PD and control groups, and was sequenced using a chip-based resequencing system.


58 nucleotide positions (np) exhibited a different allelic distribution in the two groups; in 81% of them the non-reference alleles were over-represented in PD patients, similar to findings reported in patients with Alzheimer’s disease, albeit in reduced proportion. Closer analysis of the 58 np in PD group showed that they were characterized by low-level heteroplasmy, and that the nucleotide substitutions determined an amino acid change in 84% of cases.


These results suggest that mtDNA allelic changes are increased in PD and that age-related neurodegenerative diseases could share a common mechanism involving mtDNA.

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We would like to thank all people who contributed to Report-AGE database management. In addition we wish to acknowledge the help of Belinda Giorgetti and Moreno Solazzi in laboratory procedures. This work was supported by the “Current Research” fund of the Italian Ministry of Health to IRCCS INRCA.

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Correspondence to Tiziana Casoli.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the IRCCS INRCA Ethical Committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Casoli, T., Lisa, R., Fabbietti, P. et al. Analysis of mitochondrial DNA allelic changes in Parkinson’s disease: a preliminary study. Aging Clin Exp Res 32, 345–349 (2020).

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  • Parkinson’s disease
  • mtDNA
  • MitoChip
  • Resequencing
  • Neurodegeneration