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Institute of Bioorganic Chemistry,
Polish Academy of Sciences
Z. Noskowskiego 12/14
61-704 Poznań
tel centrala: (+48) 61 852 85 03
fax: (+48) 61 852 05 32
e-mail: ibch@ibch.poznan.pl

Sekretariat Dyrektora, tel: 61 852 89 19

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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

  • Allele selective, CAG-targeted RNAi-based strategy to lower mutant polyQ proteins in polyglutamine ataxias; National Ataxia Foundation; Minneapolis, MN, USA; 688790; Pioneer SCA3/MJD Translational Research Award; Maciej Figiel and Yvon Trottier
  • Discovering disorders of brain development in Huntington disease as a consequence of possible total huntingtin deficiency in HD, using juvenile HD iPSC and fused brain organoids; National Science Center, Grant number: 2018/31/B/NZ3/03621
  • Allele-specific lowering of mutant polyQ proteins as treatment for Huntington disease, spinocerebellar ataxia type 3 and spinocerebellar ataxia type 7; National Centre for Research and Development; Grant number: ERA-NET-E-RARE-3/III/TreatPolyQ/08/2018
  • Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1); National Centre for Research and Development; Grant number: ERA-NET-E-RARE-3/III/SCA-CYP/09/2018
  • Defining new mechanisms of neurodegeneration using the first model of a knock-in SCA3 / MJD; National Science Center (Krakow); Grant number: 2013/10/E/NZ4/00621
     

 
Image of "mini-brains in a tube" under a light microscope

 

Cross-section of the "test-tube mini-brain" after immunocytochemical staining from the OPERA microscope

 

Rare Disease Day

25 February 2021