New gene for PD discovered

[Esperanto]

An international team of scientists has discovered a new gene associated with Parkinson's disease. The research, published in Nature Genetics, is based on the largest genetic study of the hereditary form of the disease worldwide. By comparing the DNA of over two thousand families with Parkinson's to that of 70,000 volunteers without the disease, the researchers identified a mutation in the RAB32 gene. This mutation leads to increased activity of the LRRK2 protein, which is an important mechanism in the development of Parkinson's. This discovery is a significant step forward in understanding the cause of hereditary Parkinson's and offers possibilities for new therapeutic targets.

nature.com/articles/s41588-...

[MattontheMove]

The original description of the new gene, RAB32, can be found here thelancet.com/journals/lane...

It’s a very important contributor to Parkinson’s disease, in part because it’s a major genetic link to immune biology and inflammation.

Although RAB32 patients and families come from all over the world, they share the same mutation descended from the same ancestral founder i.e. they are all distant cousins.

The RAB32 discovery also ties together LRRK2, VPS35 and PINK1, suggesting a ‘convergent genetic evolution’ underlies disease susceptibility. It appears that nature has clumsily broken the very same machine/mechanism multiple times.

These genes are the individual component parts that tell us what that ‘engine’ looks like, how to study it, and ultimately will tell us how to fix it.