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


Rui Qi et al.

In this study, researchers used seven NINDS Human Genetics Resource Center lymphoblastoid cell lines to develop a new PCR-based assay that measures mitochondrial genome integrity using a medium-throughput platform that produces results within 24 hours.

Using the Mito DNADX assay, researchers identified mtDNA damage as a shared blood-based candidate marker of idiopathic and LRRK2 PD.

Furthermore, mtDNA lesion frequency correlates with LRRK2 kinase activity, creating the potential to monitor pharmacodynamics of LRRK2 inhibition.

It was 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.

Although how progression and severity of disease affect mtDNA damage is currently unknown,

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.

Additional information is available on the PubMed website:

PMID: 37647388

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