For the first time, researchers have implicated the gene CHCHD2 in Huntington's disease (HD)—an incurable genetic neurodegenerative disorder—and identified the gene as a potentially new therapeutic target. In a brain organoid model of the disease, the researchers found that mutations in the Huntington gene HTT also affect CHCHD2, which is involved in maintaining the normal function of mitochondria. The study was published in Nature Communications .
Six different labs at the Max Delbrück Center participated in the study, led by Dr. Jakob Metzger of the Quantitative Stem Cell Biology lab at the and the Stem Cell Metabolism lab of Professor Alessandro Prigione at Heinrich Heine University Düsseldorf (HHU). Each lab contributed their unique expertise on Huntington's disease, brain organoids, stem cell research and genome editing.
"We were surprised to find that Huntington's disease can impair early brain development through defects associated with mitochondrial dysfunction ," says Dr. Pawel Lisowski, co-lead author in the Metzger lab at the Max Delbrück Center. Moreover, "the organoid model suggests that HTT mutations damage brain development even before clinical symptoms appear, highlighting the importance of detecting the late-onset neurodegenerative disease early," Selene Lickfett, co-lead author and a doctoral student in the Faculty of Mathematics and Natural Science in the lab of Prigione at HHU adds.
The unusual repetition of three letters An organoid is a three-d.