Myotonic Dystrophy Foundation

ROSEVILLE, CA (December 22, 2010): The Myotonic Dystrophy Foundation (MDF) is pleased to announce a new round of $100,000 awards under its postdoctoral fellowship program, "Fund A Fellow". The MDF, a patient advocacy organization, created this program to encourage and support postdoctoral researchers and to stimulate basic research in the management, treatment and cure of myotonic dystrophy (DM). This multi-systemic disease is considered the most common form of adult-onset muscular dystrophy, affecting approximately 1:8000 people worldwide.

The two $100,000 postdoctoral fellowship grants were awarded to Dr. John Cleary, Ph.D., working with Dr. Laura Ranum at the University of Florida in Gainesville, Florida, USA and Dr. Alexa Dickson, Ph.D., working with Dr. Carol Wilusz at the Colorado State University in Ft. Collins, Colorado, USA. Each recipient will receive a grant of $50,000 a year for two years. Applications were reviewed by a panel of distinguished international researchers and professionals in the field of myotonic dystrophy. Final selections were determined by the MDF Board of Directors.

Dr. Cleary's research is titled, “An investigation of the genetic mechanisms in myotonic dystrophy." The primary cause of the disease is a mutated version of a gene that contains an excess number of small repetitive sections of DNA. These sections, termed trinucleotide repeats, normally occur in numbers between 5 and 34 but in the mutant version expand upwards to several hundred or even several thousand. As a consequence when transcribed into RNA, the initial step towards making a protein, the repeats, due to their expanded size, soak up cellular proteins that bind repeat-containing RNA creating an RNA gain-of-function effect. Unable to let go of the expanded RNA, these cellular proteins are prevented from accomplishing their regular function and cause a cascade of negative consequences to the cell.

The majority of current research has assumed that certain classes of repeats, due to their location in the gene, are not made into proteins. However recent evidence by the Ranum lab suggests these repeats may actually express a variety of proteins that due to their repetitive nature could have serious cellular consequences. What is perhaps more unexpected is that the repeats make these proteins by essentially taking it upon themselves to start the process - bypassing the cell’s traditional methods by which RNA is made into proteins. These data suggest that in addition to the RNA gain-of-function effects, the expression and accumulation of these unexpected expansion proteins could also contribute to myotonic dystrophy. The focus of Dr. Cleary's postdoctoral research will be to understand the potential role that these proteins play in disease.

Dr. Dickson's research is titled, “The role of mRNA stability in myotonic dystrophy." Myotonic dystrophy is a genetic disorder caused by an increase of repeats in the DNA. Although the mechanism is unclear, researchers know the increased DNA repeat length causes a defect in CUGBP1, a protein responsible for determining the levels of gene expression in the cell. Without proper control of gene expression, abnormal levels of proteins result, which is thought to cause some of the symptoms in myotonic dystrophy. Dr. Dickson’s proposal examines the role of CUGBP1 in normal cellular function and seeks to determine the defect of the protein in myotonic dystrophy. With this knowledge, researchers may be able to more rationally design therapeutics targeted to improving the quality of life of a myotonic dystrophy patient.
Described as “the most variable of all diseases found in medicine”, myotonic dystrophy can appear at any time from birth to old age. It affects approximately 1:8000 people worldwide and can cause not only muscle weakness, atrophy and myotonia, but also problems in the heart, brain, GI tract as well as endocrine, skeletal and respiratory systems. Doctors often have difficulty diagnosing the disorder. Since the gene was identified in the early 1990’s, researchers have discovered that the genetic flaw generally enlarges and causes more severe symptoms in subsequent generations. This phenomenon renders it a genetic time bomb.

The MDF expects the funded research to complement the existing efforts of the National Institutes of Health (NIH), the Centers for Disease Control (CDC), the Muscular Dystrophy Association (MDA) and other governmental and philanthropic agencies.

# # #

For additional information about the Myotonic Dystrophy Foundation (MDF), please contact Lisa Vittek, Executive Director at lisa.vittek@myotonic.org or view the MDF website at www.myotonic.org.