CENTOGENE, University College London, and Global Team of Researchers Discover Gene Associated With New Neurodevelopmental Disease Linked to Early-Onset Dystonia and Parkinsonism

Results From Landmark Study Published in Brain Journal

• Collaborative research initiative leveraged CENTOGENE’s Whole Exome Sequencing (WES) to reveal disease-causing gene called ACBD6 (Acyl-CoA Binding Domain Containing 6)

• Over seven years, a total of 45 affected individuals from 29 independent families in Southeast Asia, Central Asia, the Middle East, Europe, and North and South America have been identified

• Study guides further research for potential treatments, including genetic causes and pathways leading to Parkinson’s disease
  

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, Nov. 14, 2023 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced the discovery of a new form of early-onset dystonia and parkinsonism in the context of neurodevelopmental abnormalities associated to the gene called ACBD6 (Acyl-CoA Binding Domain Containing 6) as part of an international team of researchers. The landmark study’s findings have been published in Brain, a leading, peer-reviewed scientific journal of neurology.

The study reports on 45 patients from 29 families and provides evidence that bi-allelic pathogenic variants in the ACBD6 gene lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders. The clinical features were similar across all patients, and the study identified a recognizable clinical pattern that will help clinicians diagnose this disease.

“Over the last years, CENTOGENE played a key role in identifying relevant patients using Whole Exome Sequencing (WES) and providing genomic and phenotypic analysis as well as overall mapping of clinical data,” said one of the paper’s lead authors, Dr. Aida Bertoli-Avella, Head of Research Data Analysis at CENTOGENE. “The findings have helped us gain a deeper understanding of neurological disorders – offering a next step towards advancing treatments and life-changing answers for these patients, their families, and the greater neurological disease community.”

To enhance their understanding of the disease’s mechanism, the research team has embarked on generating models that might help identify potential therapeutic targets. As the disease is associated with parkinsonism, a better understanding of the function of the ACBD6 gene through further studies could also shed light on genetic causes and pathways leading to Parkinson’s disease.