Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

The study focused on a rare and progressive mitochondrial disorder called polymerase gamma disease (PolG). West's team used a powerful approach—studying mice with the same genetic mutation found ...

POLG-related diseases are a diverse family of conditions all caused by mutations in a gene for a key mitochondrial protein. A newfound molecule could be a promising treatment. | Credit ...

Researchers from Pretzel Therapeutics Inc. and the University of Gothenburg have published new insights on how mutations in the POLG gene affect its functionality and are tied to PolG diseases. They ...

Now, researchers at the University of Gothenburg have discovered a small molecule that restores function in a defective mitochondrial enzyme, offering a new therapeutic avenue for diseases caused by ...

One of the causes of these syndromes is a misbehaving mtDNA polymerase called POLG. Mutations or deletions in the gene for POLG yield defective polymerases that cannot stay on the mtDNA template ...

First-in human clinical study recently initiated with PX578, lead POLG activator therapeutic in Pretzel’s bioenergetics restoration franchise The study, conducted in collaboration with Pretzel ...

and offering a promising approach for the treatment of POLG disorders and other severe conditions linked to mtDNA depletion, a significant unmet medical need. "This publication in Nature ...

Get Instant Summarized Text (Gist) A molecule named PZL-A has been identified as a potential treatment for mitochondrial diseases caused by POLG mutations, which disrupt cellular energy production ...