The majority of genes in the human genome is present in two copies but the expression levels of both alleles is not equal. Allelic imbalance is relevant to a full understanding of  the pathogenesis of dominant genetic disorders. In the BMC Biology paper, the results of allelic expression (of normal and mutant allele) in the context of polyglutamine (polyQ) neurodegenerative diseases were presented. In the study, a set of advanced cellular models (including patient-derived neuronal cells) and Huntington’s disease mouse model were applied. The obtained results allowed to provide novel findings concerning transcripts related to polyQ diseases, including those concerning allelic expression changes during neuronal differentiation.

The study was performed by the members of the Department of Medical Biotechnology, IBCH PAS (Paweł Joachimiak, Adam Ciesiołka, Emilia Kozłowska, Paweł Świtoński, Grzegorz Figura, Agata Ciołak, Grażyna Adamek, Agnieszka Fiszer) in collaboration with the Department of Molecular Neurobiology, IBCH PAS (Magdalena Surdyka, Żaneta Kalinowska-Pośka, Maciej Figiel) and the Department of Medical Genetics, University of British Columbia, Vancouver, Canada (Michael Hayden, Nicholas Caron).

The link to the article:

https://bmcbiol.biomedcentral.com/articles/10.1186/s12915-023-01515-3