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.
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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.