Thursday, January 4, 2024

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease (PD) using genome-wide association studies, most studies have been performed in just one population at a time. An internationally conducted and funded research group recently performed a large-scale multi-ancestry meta-analysis of PD with individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, they identified 78 independent genome-wide significant loci, including 12 potentially novel loci.

By combining these results with publicly available data, researchers identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations. Click here to learn more.

Rumi and X-Chem partner to develop BRD9 inhibitor for Huntington’s

A company specializing in therapeutics for neurodegenerative diseases (Rumi Scientific) has partnered with a provider of innovative solutions in early-stage drug discovery (X-Chem) to develop a BRD9 inhibitor to treat Huntington’s disease (HD). An epigenetic reader was selected by the companies as the novel therapeutic target for HD with the potential for disease modification.

According to Rumi CEO Allen Fienberg, PhD, “BRD9 inhibition is a novel target for the treatment of HD identified by our proprietary high throughput organoid phenotypic screening platform. We look forward to working closely with the team at X-Chem on the development of the lead molecule and to advancing it toward clinical studies.” Click here to learn more.

Botulinum toxin effective in treating isolated or essential head tremor

A randomized, placebo-controlled trial funded by the French Ministry of Health aimed to investigate the efficacy and safety of botulinum toxin in the treatment of isolated or essential head tremor. Patients in the study received botulinum toxin or placebo, and injections were administered over the course of twelve weeks into each splenius capitis muscle under electromyographic guidance.

Six weeks following the second injection, 31% of patients in the botulinum toxin group achieved a 2+ point improvement on the CGI scale versus 9% of patients in the placebo group. Adverse events were generally mild and occurred in 47% of patients in the botulinum toxin group versus 16% of patients in the placebo group. Click here to learn more.

Newly discovered genetic mutation protects against Parkinson's disease and offers hope for new therapies

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson's disease (PD) and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study. The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be highly protective against PD; individuals with this mutation are half as likely to develop the disease as those who do not carry it.

"This study advances our understanding of why people might get Parkinson's and how we might develop new therapies for this devastating disease," said Pinchas Cohen, professor of gerontology, medicine and biological sciences and senior author of the study. Click here to learn more.

Demystifying Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a complex and progressive neurological disorder that has puzzled researchers for years. A recent study published in the Annals of Neurology, however, has provided new insights into the pathogenesis of this condition, showing prominent astrocyte degeneration in the white matter of individuals with FXTAS. Astrocytes are star-shaped glial cells in the brain and spinal cord that play crucial roles in the central nervous system.

The loss of these astrocytes could have far-reaching implications, potentially affecting other cells in the brain that rely on them for metabolic support. The findings of the study have led the authors to speculate that astrocytes could represent a novel target for the treatment of FXTAS, opening up new avenues for potential therapies. Click here to learn more.