Genetic variations could explain the appearance of certain forms of dementia, such as dementia with Lewy bodies.
- Dementias can be linked to genetic variations.
- A recent study identifies two genetic factors linked to two forms of dementia: dementia with Lewy bodies and frontotemporal dementia.
- This discovery paves the way for future research into treatments.
More than 55 million people suffer from dementia worldwide, according to the World Health Organization. This impairment of cognitive functions can have many causes. American researchers have just discovered new risk factors, linked to genetics. According to them, DNA changes can increase the risk of suffering from dementia with Lewy bodies or frontotemporal dementia. They explain their discovery in Cell Genomics.
Dementia: a study of several thousand samples
The genetic changes discovered by this scientific team are structural variants. This type of DNA modification is implicated in a variety of neurological disorders. “Unlike the more commonly studied mutations, which often affect one or a few building blocks of DNA called nucleotides, structural variants sometimes represent 50 but often hundreds or even thousands of nucleotides at a time, making them more difficult to to study”, the authors said in a press release. The team used state-of-the-art algorithms and artificial intelligence to map structural variants in the genome across several thousand samples from people with and without dementia.
Genome: changes associated with dementia with Lewy bodies
Researchers have discovered a previously unidentified variant of the TCPN1 gene in patients with Lewy body dementia. According to the authors, this variant leads to the deletion of more than 300 nucleotides of the gene and is associated with a higher risk of developing the disease. “Although this finding is new to Lewy body dementia, TCPN1 is a known risk factor for Alzheimer’s disease, which could mean that this structural variant plays a role in several forms of dementia.“, they note.
Furthermore, the analyzes also identified two risk factors for frontotemporal dementia in the C9orf72 and MAPT genes. “From a genetic point of view, this is a very exciting discovery.says Dr. Sonja Scholz, lead author of the study. It provides a reference point for cell biology and animal model studies and eventually, a target for interventionThe researchers have already made their data available to the scientific community in a catalog. According to them, this will make complex genetic data more accessible to experts to accelerate the pace of research.
Dementia: understanding the causes in order to be able to treat them
Better understanding the origin of these pathologies is a first step in the development of treatment to cure them. “Research to unravel the complex genetic architecture of neurodegenerative diseases is driving significant advances in scientific understanding“, details Bryan J. Traynor, co-author.”Each discovery sheds light on the mechanisms behind neuronal cell death or dysfunction, paving the way for precision medicine to combat these debilitating and deadly disorders..