Information for Researchers | Overview
The fundamental goals of the Beggs Laboratory are to understand the molecular biology of skeletal muscle and to use this information to study inherited disorders of muscle function. To achieve this, our laboratory is taking four complementary approaches.
The first approach is to identify and characterize new muscle-specific genes and proteins and learn as much as possible about their basic biology. The underlying assumption is that these new genes are likely to include ones that are defective in patients with various congenital myopathies. Much previous work has concentrated on the α-actinins which are essential Z-line proteins. Current studies include several new sarcomeric proteins identified through interactions with α-actinin.
After learning about the cell biology and biochemistry of normal genes and proteins, we are then in a position to look for abnormalities of these genes in patients with muscle weakness. Thus, the second approach is to ascertain and enroll patients and families with various congenital myopathies and then study their DNA and muscle to find and understand the causes of their disorders. In the past few years, we have made much progress in understanding the basis of nemaline myopathy, including the identification of three thin filament proteins involved in this disorder. Current studies are also focusing on myotubular/centronucluclear myopathy, multi/minicore myopathies, SELENON related myopathies , and other forms of congenital myopathy, including undefined cases without firm diagnoses. Knowing the genetic basis for each disorder will be critical to designing specific and effective treatments for some of these diseases.
This page was last updated October 23, 2020.