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

  • Tiziana CasoliEmail author
  • Rosamaria Lisa
  • Paolo Fabbietti
  • Fiorenzo Conti
Short Communication



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.


Parkinson’s disease mtDNA MitoChip Resequencing Neurodegeneration 



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.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

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.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

40520_2019_1197_MOESM1_ESM.pdf (186 kb)
Supplementary file1 (PDF 185 kb)
40520_2019_1197_MOESM2_ESM.pdf (193 kb)
Supplementary file2 (PDF 193 kb)


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Center for Neurobiology of AgingIRCCS INRCAAnconaItaly
  2. 2.Scientific DirectionIRCCS INRCAAnconaItaly
  3. 3.Diagnostic Unit of Geriatric PharmacoepidemiologyIRCCS INRCACosenzaItaly
  4. 4.Section of Neuroscience and Cell Biology, Department of Experimental and Clinical MedicineUniversità Politecnica Delle MarcheAnconaItaly

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