Laxman Gangwani, Ph.D., a researcher in Texas Tech University Health Sciences Center El Paso’s Center of Emphasis in Neurosciences, received a five-year, $2.1 million grant from the National Institutes of Health to study genetic mutations associated with life-threatening neurodegenerative disorders that cause muscles to weaken and deteriorate.
These incurable diseases include a juvenile form of amyotrophic lateral sclerosis (ALS), often called Lou Gehrig’s disease, and spinal muscular atrophy (SMA). Dr. Gangwani is optimistic that his research into the genetic and molecular mechanisms behind these disorders will identify potential targets for drug therapies to slow or stop the progression of disease.
Dr. Gangwani, who serves as a professor at TTUHSC El Paso, said his research will focus on a gene that plays a role in the survival and growth of the spinal cord motor neurons — nerve cells that control muscle function. In people who have ALS, SMA or similar neuromuscular disorders, the genetic material of nerve cells is defective, which results in gradual deterioration of nerve cells.
These nerve cells progressively lose their ability to send signals to muscles, which in turn begin to weaken and waste away. Infants born with SMA, for example, have difficulty breathing and swallowing, and are unable to sit up on their own. Persons with ALS often show initial symptoms of muscle weakness in the legs or arms. As the disease progresses, they may have difficulty breathing, speaking and eating.
The goal of Dr. Gangwani’s study is to examine the function of “zinc finger protein,” ZPR1, and its function in RNA-DNA hybrid strands called R-loops. Zinc finger proteins interact with RNA and DNA strands to regulate cellular processes. Defects in R-loop processing, often associated with DNA damage, can lead to the neurodegeneration found in patients with neurodegenerative disorders.
“When R-loops are formed, they need to be resolved in a timely manner in the cell,” Dr. Gangwani said. “If these aren’t resolved for any reason, they lead to DNA damage, genomic instability or other cellular defects, which would result in the death of cells – in this case neurons, because we’re talking about neurogenerative diseases.”
Dr. Gangwani would like to see the research eventually lead to treatment, if not a cure in the long-term.
“This is basic research that can be translated into clinical research, and that could lead to development of therapeutic strategies to treat neurodegenerative diseases,” he said.
TTUHSC El Paso plays a pivotal role in transforming health care for a region historically underserved. Research is key to the university’s mission of understanding the intricacies of diseases that impact our predominantly Hispanic population on the U.S.-Mexico border.
Research at TTUHSC El Paso is done primarily in the Department of Molecular and Translational Medicine’s four Centers of Emphasis at the Foster School of Medicine. There, faculty researchers and students they mentor are pursuing discoveries and developing treatments for diseases prevalent in the Borderland, including neurological disorders, diabetes, cancer and infectious diseases. While their work impacts the nation as a whole, its focus on Hispanic populations will lead to better, healthier lives for all Borderland residents.