Multiple gene variants are linked to Parkinson’s disease, but which ones are the most relevant?
. It gradually impairs a person’s ability to function until they ultimately become immobile and often develop dementia. In the U.S. alone, over a million people are afflicted with Parkinson’s, and
“Linkage” between a pathogenic genetic variant and disease development is so significant that it can inform a diagnosis. It has also become the basis of many lab models used to study the consequences of gene dysfunction and how to fix it. Linkage studies, like the one20 genes. Notably, many patients in families with parkinsonism have symptoms that are indistinguishable from typical, late-onset Parkinson’s.
Together, “linked” and “associated” discoveries imply a number of molecular pathways are involved in Parkinson’s. Each identified gene and the proteins they encode typically can have more than one effect. The functions of each gene and protein may also vary by cell type. The question is which gene variants, functions and pathways are most relevant to Parkinson’s? How do researchers meaningfully connect this data?.
Just as each make of motor is subtly different, what makes each person genetically susceptible to nonfamilial Parkinson’s disease is also subtly different. However, analyzing genetic data can now test for types of dysfunction in the cell that are hallmarks of Parkinson’s disease. This will help researchers identify environmental factors that influence the risk of developing Parkinson’s, as well as medications that may help protect against the disease.
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