Mito MTRFR/C12orf65

Types of CMT

CMT is linked to single gene defect MTRFR

If you just graduated med school, you might know it as MTRFR. But if you’ve been in the game for a while, you probably know it as C12ORF65. Many patients diagnosed with this single gene defect experience ataxia, optic atrophy, peripheral neuropathy and shortened lifespan.

Maybe you’re a friend or family of a recently diagnosed patient, maybe you’re a researcher working on this gene or maybe you’re a parent who just received devastating news.

Whoever you are, you’re welcome here and we hope to help you understand more about our mission, our cause and what we are doing to change the outcome.

Table comparing medical terminology: science language terms and their layman language equivalents. — Mito Language

HNF Research Initiatives

Novel Disease Modifying Drugs

University of Helsinki

The Battersby Lab receives support from HNF to gain a better understanding of the ….. and to develop an effective treatment approach for MTRFR or C12orf65 deficiency. Brendan Battersby, PhD is working closely with Jax Lab under the direction of Robert Burgess, PhD to develop a mouse model to test a gene therapy. The AAV9 therapy was developed by HNF in collaboration with Steven Gray, Phd. Rita Horvath, MD, PhD from Cambridge is the clinical advisor on the research team.

The goal is to develop an effective treatment approach for C12orf65 deficiency that could be extended to other human mitochondrial diseases, which affect an estimated one in 5000 people worldwide. This would mark a significant breakthrough in the hunt for treatments and cures for inherited mitochondrial diseases.

Natural History Studies

Not sure of your CMT type? You can find out through HNF's CMT Genie program.

Find your CMT type