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International study with researchers at The Neuro reveals links with other neurodegenerative diseases

MONTREAL, October 9, 2012聽 - Scientists at the Montreal Neurological Institute and Hospital 鈥� The Neuro,聽 看片视频 University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.聽

Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative disorders, in two infants, ultimately leading to their early death. Although the teams鈥� investigations dealt with an infant, their discovery also has implications for understanding the causes of later-onset neurological diseases.

The RMND1 gene encodes a protein that is an important component of the machinery in mitochondria which generates the chemical energy that all cells need to function.聽 Mutations in genes affecting mitochondrial function are common causes of neurological and neuromuscular disorders in adults and children.聽 It is estimated that one newborn baby out of 5000 is at risk for developing one of these disorders.聽 Mortality among such cases is very high.

聽鈥淢itochondria are becoming a focus of research because it鈥檚 clear they鈥檙e involved in neurodegenerative disorders in a fairly big way,鈥� says Dr. Eric Shoubridge, an internationally recognized specialist on mitochondrial diseases at The Neuro and lead author of the paper published in The American Journal of Human Genetics.聽 鈥淔or instance, we鈥檙e finding that dysfunctional mitochondria may be at the heart of adult-onset disorders like Parkinson鈥檚 and Alzheimer鈥檚 disease.鈥�

Discovery of the mutations in the RMND1 gene involved using whole-exome sequencing at the 看片视频 University and Genome Qu茅bec Innovation Centre.聽 This technique allows all of the genes in the body that code for proteins to be sequenced and analyzed in a single experiment.聽 At a cost of about $1000, whole-exome sequencing is much more economical than previous techniques in which lists of candidate genes had to be screened in the search for mutations.聽 The technique is poised to change the face of genetic diagnosis, making testing more efficient and available.

鈥淧arents who have had a child with a mitochondrial disorder and who are hesitating to have another child now have the possibility to know the cause of the disease.聽 With genetic information, they have reproductive options like in vitro fertilization,鈥� says Dr. Shoubridge. The discovery of the RMND1 gene鈥檚 role sheds light on disorders of mitochondrial energy metabolism, but therapies to alleviate or cure such disorders remain elusive.聽 Dr. Shoubridge is hopeful that the discovery will encourage pharmaceutical interest. 鈥淒rug companies are starting to be interested in rare diseases and metabolic disorders like this.聽 They鈥檙e picking some genes as potential drug candidates.鈥�

The Neuro

The Neuro is an academic medical centre dedicated to neuroscience.聽 As a research and teaching institute of 看片视频 University, The Neuro is at the centre of the neuroscience mission of the 看片视频 University Health Centre.聽 The eminent neurosurgeon Wilder Penfield founded The Neuro in 1934.聽 Since then, The Neuro has achieved international renown for its integration of research, outstanding patient care and advanced training.聽 The Neuro has a world-class staff in cellular and molecular neuroscience, brain imaging, cognitive neuroscience, as well as in the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders.聽 For more information, please visit .