On February 28, 2021, Rare Disease Day is celebrated. The observance aims to raise awareness for rare diseases and their impact on the health and life of society. Research on such diseases is conducted at the Institute of Bioorganic Chemistry, Polish Academy of Sciences.
Dr. habil. Maciej Figiel’s team (Department of Molecular Neurobiology) researches in international cooperation co-financed by the NCBR (ERA-NET E Rare program) in the field of rare diseases. As part of the projects, the scientists are focusing on the risk of nervous system diseases – Huntington’s disease (HD) and spinocerebellar ataxia (SCAs), belonging to the group of polyglutamine diseases (polyQ). Such diseases are associated with a special type of mutation in genes, which consists of increasing the number of CAG (cytosine, adenine, guanine) trinucleotide repeats in the strand of the DNA chain. The increased number of CAG repeats in the gene causes the formation of proteins with an increased number of glutamines, which changes the structure of the protein and affects its malfunction. These diseases cause a significant deterioration in the quality of life of both patients and their relatives (those patients need constant care), therefore it is important to seek effective therapies.
One of the most famous polyQ diseases is Huntington’s disease, which occurs mostly in people aged 35-50. This neurodegenerative disorder significantly worsens the quality of life as it manifests itself in involuntary body movements and progressive dementia and cognitive impairment, which leads to wasting and premature death. Spinocerebellar ataxias, on the other hand, constitute a large group of polyQ diseases with various genetic backgrounds, but too many CAG repeats in a specific gene are responsible for the development of all of them. SCAs are diseases difficult to study and find effective treatments for. The researchers of the IBCH PAS team focused on one of the six types of ataxia (SCA3), also known as Machado-Joseph disease because it is the second most common polyQ disease in the world (after HD). Affected patients are distinguished by, among others: uneven gait, swallowing problems and impaired eye movement with age.
Research into the pathogenesis and treatment of polyglutamine diseases is not easy. Thanks to the development of science, our scientists can easily test many possible solutions to find the appropriate treatment methods and improve the patients’ quality of life. In recent years, researchers from the IBCH PAS’ Department of Molecular Neurobiology focused on the development of human organoid models of neurodegenerative diseases (so-called “mini-brains in a test tube”) in order to better understand the impact of CAG expansion on human neurodevelopment and adolescent polyQ diseases. This contributed to the broadening of knowledge, concluding and the creation of research papers that found their way into international journals in the field of neurobiology.
Funding of the rare diseases research in Department of Molecular Neurobiology
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