MTRFR/C12orf65
A rare axonal hereditary motor and sensory neuropathy which presents with a series of diseases that cause blindness and cognitive impairment. MTRFR/ C12orf65 may result in CMT6, Leigh Syndrome, Spastic Paraplegia-55, Behr Syndrome and COXPD.
Current Research
University of Cambridge, Rita Horvath, MD, PhD, Director of Clinical Neurosciences has enrolled 15 patients, including Jaxson, in the MTRFR/C12orf65 natural history study. Dr. Horvath is an expert in mitochondrial diseases and has developed an impressive model for collecting, curating, and analyzing patient data for publication. With the completion of the enrollment phase of the study, a greater understanding of the symptoms, complications and progressions of these patients will allow a more targeted treatment approach.
In addition, Dr. Horvath’s lab has developed stem cells from patients that they have caused to grow into neurons. These neurons show signs of mitochondrial dysfunction that could point the way toward screening drugs for potential treatments.
University of Helsinki Institute of Biotechnology, Brendan Battersby, PhD continues to gain more insight on MTRFR/C12orf65 in specific models he developed and to test potential biological (drugs) as therapeutic approaches to treat disease. His lab has shown that proteins essential for mitochondrial function are reduced in cells lacking MTRFR.
Jackson Laboratories, Robert Burgess, PhD has developed mouse models that show loss of MTRFR is detrimental to health, and replacement of the gene with a healthy copy can prevent these negative consequences. While the mice that his lab has produced are not yet suitable for testing gene therapies or drugs, the work has shown that a gene therapy approach may be beneficial to patients.
Learn more on this topic
Latest News and Related Blog Posts
HNF tackles the hidden mysteries behind the genetic diagnosis of CMT mitochondrial diseases
C12orf65 gene, a rare form of CMT also known as Leigh Syndrome is robbing young children of a normal life even beyond the classic CMT symptoms.
CMT6 (c12orf65) “One gene, two diseases”
C12orf65 can present as two different types of diseases called CMT6 and Leigh’s Syndrome. Both diseases are caused by dysfunction of mitochondria, the energy factory of our cells, and are progressive and, many times, devastating.
Chrome Divas Host Another Successful CMT6 Event
On September 9th, The Rochester Chrome Divas hosted a Scavenger Hunt to raise money for CMT6 research.
Scavenger Hunt Motorcycle Event for CMT6: A Success
The Rochester Chrome Divas hosted a Scavenger in the Finger Lakes of NY on September 9th. Mother nature provided us a sunny cool fall day for the ride.
Scavenger Hunt Victor, New York: September 9, 2017
Scavenger hunt September 9th, 2017
Summit Panelist Spotlight: Debi Houliares
When Debi’s son Zach was first diagnosed with CMT Type 6 in 2014, after 14 years of doctors trying to figure it out, she couldn’t believe there was a disease out there that no one has ever heard of.
A Night To Remember: First Casino Night Event For CMT6
On Thursday April 21, 2016, over 160 Zach supporters gathered for the 1st Casino Night to benefit CMT6!
HNF 1 Of 20 Rare Disease Groups Selected To Develop Natural History Studies By NORD
The Hereditary Neuropathy Foundation is proud to be included among leading rare disease groups, as we collectively aim to fill the research gaps to better understand how these rare diseases progress over time.
CMT 6 Football Event
On October 23, 2015 the Victor New York Blue Devils Football boosters and coaching staff dedicated their first playoff game from their undefeated season to team manager Zach Houliares.
Hereditary Optic Neuropathy
Optic neuropathy is one of the symptoms of a less common form of Charcot-Marie-Tooth disease known as CMT6.