Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. The disease leads to a gradual weakening and atrophy of the muscles, which can initially manifest itself in breathing difficulties, swallowing problems, immobility and even death.
The molecular cause of the development of incurable ALS is complex and not fully understood. Thus, diagnosing amyotrophic lateral sclerosis is a significant challenge as its symptoms are similar to those of other diseases.
Lendület Genomszerkezet és Rekombináció Kutatócsoport [Momentum Genome Structure and Recombination Research Group], which operates at the Department of Molecular and Nano-pharmaceutical Sciences of the Faculty of Pharmacy at the University of Debrecen (UD), recently performed a so-called integrative epigenomics study on blood samples taken from ALS patients.
“For studying DNA variants and mutations, clinical exome sequencing was used. For assessing chromosomal R-loop distribution, we applied DNA-RNA hybrid immunoprecipitation sequencing, while for examining DNA methylation changes, bisulfite sequencing was the technique used. These datasets were then combined to create a comprehensive repository of genetic and epigenetic changes associated with the ALS cases studied,” said Lóránt Székvölgyi, PhD, Associate Professor at DE GYTK, who was the leader of the research.
He added that the repository now is well suited to unveil new correlations within individual patients as well as across the entire patient cohort. The molecular attributes described here are expected to guide further mechanistic studies on ALS, shedding light on the underlying genetic and epigenetic causes and facilitating the development of new epigenetic therapies to combat this life-threatening disease.
The full-length English-language version of the paper summarizing the findings of this research is available here.
Press Centre – OCs
