Researchers from The Institute of Genetics and Animal Biotechnology, of the Polish Academy of Sciences, the Max Delbrück Center for Molecular Medicine (MDC), the Berlin Institute for Medical Systems Biology (BIMSB), the Charité – Universitätsmedizin Berlin and the Heinrich Heine University Düsseldorf, using advanced technologies of human brain organoids and genome engineering, have identified an early, neurodevelopmental mechanism that affects the development of Huntington's disease through mitochondria. The identified gene responsible for this mechanism may contribute to brain abnormalities much earlier than previously thought. Based on these studies, scientists have also proposed a therapeutic approach consisting of changes in the expression of the identified gene in combination with gene therapy aimed at removing the toxic mutation causing the studied disease, which allowed for the reversal of the observed pathological changes. The study conducted by Paweł Lisowski, Phd, DSc and colleagues was published in "Nature Communications".
Further reading:
https://www.eurekalert.org/news-releases/1055398
https://www.sciencedaily.com/releases/2024/08/240822125933.htm
https://huntingtonsdiseasenews.com/news/proteins-loss-brain-may-cause-huntingtons-long-before-onset/
More information about Pawel Lisowski, PhD, DSc research under www.functionalgenomics.pl