Publications | A blood-based marker of mitochondrial DNA damage in Parkinson’s disease

Parkinson's disease (PD) is the most common neurodegenerative movement disorder, and neuroprotective or disease-modifying interventions remain elusive. High-throughput markers aimed at stratifying patients on the basis of shared etiology are required to ensure the success of disease-modifying therapies in clinical trials. Mitochondrial dysfunction plays a prominent role in the pathogenesis of PD. Previously, we found brain region-specific accumulation of mitochondrial DNA (mtDNA) damage in PD neuronal culture and animal models, as well as in human PD postmortem brain tissue. To investigate mtDNA damage as a potential blood-based marker for PD, we describe herein a PCR-based assay (Mito DNADX) that allows for the accurate real-time quantification of mtDNA damage in a scalable platform. We found that mtDNA damage was increased in peripheral blood mononuclear cells derived from patients with idiopathic PD and those harboring the PD-associated leucine-rich repeat kinase 2 (LRRK2) G2019S mutation in comparison with age-matched controls. In addition, mtDNA damage was elevated in non-disease-manifesting LRRK2 mutation carriers, demonstrating that mtDNA damage can occur irrespective of a PD diagnosis. We further established that Lrrk2 G2019S knock-in mice displayed increased mtDNA damage, whereas Lrrk2 knockout mice showed fewer mtDNA lesions in the ventral midbrain, compared with wild-type control mice. Furthermore, a small-molecule kinase inhibitor of LRRK2 mitigated mtDNA damage in a rotenone PD rat midbrain neuron model and in idiopathic PD patient-derived lymphoblastoid cell lines. Quantifying mtDNA damage using the Mito DNADX assay may have utility as a candidate marker of PD and for measuring the pharmacodynamic response to LRRK2 kinase inhibitors.

Principal Investigator(s):

Author(s):
Qi, R., Sammler, E., Gonzalez-Hunt, C.P., Barraza, I., Pena, N., Rouanet, J.P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K.I. Weinstein, A.M., Lutz, M.W., Kwok, J.B., Halliday, G.M., Dzamko, N., Padmanabhan, S., Alcalay, R.N., Waters, C., Hogarth, P., Simuni, T., Smith, D., Marras, C., Tonelli, F., Alessi, D.R, West, A.B., Shiva, S., Hilfiker, S., Sanders, L.H

PubMed:
37647388
Citation:
Qi, R., Sammler, E., Gonzalez-Hunt, C.P., Barraza, I., Pena, N., Rouanet, J.P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K.I. Weinstein, A.M., Lutz, M.W., Kwok, J.B., Halliday, G.M., Dzamko, N., Padmanabhan, S., Alcalay, R.N., Waters, C., Hogarth, P., Simuni, T., Smith, D., Marras, C., Tonelli, F., Alessi, D.R, West, A.B., Shiva, S., Hilfiker, S., Sanders, L.H
Science Translational Medicine
2023
Aug
15
eabo1557
doi:
10.1126/scitranslmed.abo1557
PMID: 37647388