What does this mean? 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.
CMT6 is a complex type of CMT because it is associated with many other features in addition to the typical CMT symptoms such as delayed learning, blindness, language impairment and shorter life expectancy. Some patients with mutations in the C12orf65 associated with severe mitochondrial dysfunction can also present an aggressive central nervous system disease called Leigh’s syndrome. Symptoms are frequently triggered by a viral infection and include developmental delay or regression, loss of coordination, vision and hearing loss, memory disturbance and low or weak muscle tone.
HNF has been working hard to raise funds for Zachary Houliares, a young man, age 21 and others like him to find a treatment. Despite Zachary challenges and being legally blind, he has excelled in his community as a sport star coaching for his high school team and is continuing his passion at the college level. This past winter, Zach caught the flu and experienced a severe decline of his CMT which led to the diagnosis of Leigh’s Syndrome. It’s only now that we have learned, that CMT6 and Leigh’s Syndrome share the same gene, but Leigh’s syndrome presents more severely.
HNF, in collaboration with Robert Burgess, PhD at Jackson Labs, Steven Gray, PhD at UT Southwestern and Mario Saporta, MD, PhD, MBA at the University of Miami, are working diligently on developing a therapy for these diseases.