A recent study presented at the annual meeting of the American Neurological Association has identified four genetic variants that are associated with an increased risk of developing progressive multifocal leukoencephalopathy (PML). PML is a rare and potentially fatal brain infection that primarily affects individuals with weakened immune systems, such as those with multiple sclerosis who are taking PML-linked drugs.
The study, conducted by researchers from Population Bio UK Inc. in Begbroke, England, analyzed the genetic risk variants in the genomes of 336 PML patients, including 94 patients with multiple sclerosis. The researchers found that carriers of at least one of the identified risk variants had a ninefold increased risk of developing PML after exposure to PML-linked drugs.
All four of the identified risk variants were predicted to be harmful and were found in two immune pathways: the complement system (C8B and FCN2) and genes associated with hemophagocytic lymphohistiocytosis (HLH) disorders (STXBP2 and LY9). Previous case reports have also shown a connection between HLH and PML, further supporting this link.
Peggy S. Eis, Ph.D., from Population Bio Inc. in New York City, emphasized the importance of knowing one’s genetic risk for PML since there is currently no cure for the condition. She highlighted the need for prevention and screening, even for drugs with a low chance of causing PML, due to the potential consequences for those who test positive.
The identification of these genetic risk variants provides valuable insights into the development of PML and may aid in improving prevention strategies. Further research is needed to fully understand the underlying mechanisms and potential therapeutic implications. Genetic screening for these risk variants could help identify individuals who may be at higher risk of developing PML, allowing for proactive measures to reduce their chances of infection.
– Eli Hatchwell, M.D., Ph.D., Population Bio UK Inc.
– Peggy S. Eis, Ph.D., Population Bio Inc.
(Source: “Four Genetic Variants Linked to Increased Risk of Progressive Multifocal Leukoencephalopathy” – HealthDay)