MDA awarded $411,000 to Lee-Jun Wong, professor in the department of molecular and human genetics at Baylor College of Medicine, Houston, for research designed to produce a one-step diagnosis procedure for complex mitochondrial myopathies.
Diagnosis of mitochondrial disorders often is difficult because the disease can present with any of a number of different symptoms including muscle weakness, exercise intolerance, paralysis or weakness of the eye muscles, deafness, seizures, lack of coordination, movement disorder, and strokelike episodes.
Current diagnostic methods are based on the genetic testing of individual genes, one by one. Such a process can be tedious, expensive and time-consuming, and isn't able to uncover all the different types of mutations that may be responsible for mitochondrial disorders.
"The availability of a one-step diagnostic approach is particularly important since mitochondrial myopathy accounts for a large proportion of patients, from children to adults, with muscular dystrophy," Wong said. "Prompt, definitive diagnosis is essential for proper patient management, treatment and genetic counseling."
Wong's group plans to establish a one-step technology that will allow for the detection of all of the various types of mutations that can result in mitochondrial myopathy. The team will validate its technique using archived DNA samples from people with mitochondrial neuromuscular disorders.
"My first research grant was from MDA, and it helped me develop a comprehensive method to screen mutations in mitochondrial DNA," Wong said. "Now, as an established and experienced principal investigator focusing on the molecular diagnosis of mitochondrial disorders, new MDA funding allows me to bring in an innovative one-step approach to comprehensive diagnosis of the complex dual genome mitochondrial disorders."
Funding for this MDA grant began August 1, 2010.