The Parent Project Muscular Dystrophy (PPMD) has awarded a $100,000 grant to a UCLA professor to support research on the signature profile of immune cells in patients with Duchenne and Becker muscular dystrophy.
“Understanding the immune profile and how it changes through the course of disease can provide researchers and clinicians better models of disease pathology and progression,” the PPMD said in a press release.
The grant’s recipient, Carrie Miceli, PhD, co-director of the Center for Duchenne Muscular Dystrophy at University of California – Los Angeles (UCLA), said she is grateful to the PPMD for supporting her research, and for collaborating with her team extensively over many years.
Muscular dystrophy covers a group of disorders characterized by varying degrees of muscle weakness. In both Duchenne and Becker, the disorder is caused by genetic mutations in the DMD gene, which provides instructions for the production of a protein called dystrophin, which is responsible for supporting and protecting muscle fibers.
These mutations usually prevent patients with Duchenne from producing dystrophin. Individuals with Becker retain the ability to produce dystrophin, but the protein either malfunctions or its levels are insufficient.
When dystrophin is absent, or malfunctions, the membrane surrounding muscle cells becomes unstable, leading to an abnormal infiltration of immune cells into the muscle, which may contribute to disease progression.
“Although the immune response is known in Duchenne, there remains a gap in our knowledge regarding the specific subsets of immune cells that characterize Duchenne and how they relate to disease progression,” said Abby Bronson, senior vice president of Research Strategy at PPMD.
“The work being performed at UCLA by Dr. Miceli and her team aims to uncover the assorted immune cells present in Duchenne by immuno-phenotyping [a technique to assess which proteins are being produced by a subset of cells] cells from various patient populations. Samples collected from Duchenne, Becker, and control patients at UCLA will undergo immuno-phenotyping through newer mass cytometry technology,” she added.
Miceli said the award would help advance profiling of Duchenne.
“By exposing samples to a panel of validated antibodies, we will be able to characterize and classify the different subsets of immune cells present in Duchenne compared to Becker and control patients. Furthermore, investigating samples from patients at various ages and different severities of Duchenne may explain how the immune cell profile changes throughout the course of the disease and identify links between immune infiltrate, blood immune profile and disease severity,” Miceli said.
“Thanks to this grant from PPMD and with recent advancements in technology, the number of immune cell markers that can be examined has expanded, allowing for a deeper profiling DMD [Duchenne muscular dystrophy] peripheral blood and immune infiltrate than before. We appreciate our ongoing partnership with the PPMD team,” she added.
The Center for Duchenne Muscular Dystrophy at UCLA is a renowned clinic that in 2016 became the 12th facility to receive the PPMD’s Certified Duchenne Care Center designation. To date, only 25 clinics across the U.S. have received this certification.
The PPMD’s Bronson is convinced the findings from the UCLA research may bring groundbreaking improvements to care and treatment for patients with muscular dystrophy.
“Better interrogation and characterization of the immune cells present in Duchenne has the potential to improve both care and treatment of disease. This work may also discover blood biomarkers that can be used to monitor disease progression and response to therapeutic interventions. We are hopeful that by revealing various immune cells present in dystrophic muscle, this project may expose new targets for therapeutic intervention,” Bronson said.