Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease - Part 1

In part one of this series, Dr. Katie Krulisky and Dr. Cristina Domínguez-González discuss when a neurologist should start thinking about mitochondrial disease.

Show citation:

Bermejo-Guerrero L, Restrepo-Vera JL, Martin-Jimenez P, et al. Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease. Neurol Genet. 2026;12(2):e200365. Published 2026 Mar 10. doi:10.1212/NXG.0000000000200365

Show transcript:

Dr. Katie Krulisky:

This is The Neurology Minute, and this will be a two-part series. I've had the pleasure of speaking with Cristina Domínguez-González from the 12th of October University Hospital and its affiliated Health Research Institute in Madrid, Spain. I'm Katie Krulisky from the University of Utah. We've just recorded a full podcast on our paper, Clinical Heterogeneity and Candidate Biomarkers and POLG-related Mitochondrial Disease, which has been published in Neurology Genetics. So for our first minute, Cristina, when should a neurologist start thinking about mitochondrial disease?

Dr. Cristina Domínguez-González:

Mitochondrial diseases are among the most common inherited neurological disorders. Think of them whenever you see compatible features like ptosis ophthalmoplegia, polyneuropathy, ataxia or myopathy, especially when they occur in combination. But even when these features appear in isolation, mitochondrial disease should still be part of the differential. This is particularly important because many patients do not present with a full classical picture, especially in early the disease course. In practice, this means maintaining a low threshold to consider mitochondrial disease, even in a typical presentations.

Dr. Katie Krulisky:

Thank you so much. And for more information on mitochondrial disease and POLG-related disorders, do listen to the full neurology podcast. Again, I'm Katie Krulisky from the University of Utah with Cristina Domínguez-González from the 12th of October University Hospital and its affiliated Health Research Institute in Madrid, Spain.