Fact 9. The Genetic Component of DLB: A Piece of the Puzzle
Though DLB is predominantly sporadic, meaning it occurs by chance, a genetic component has been identified in a small percentage of cases. Certain genes, such as SNCA and GBA, have been implicated in familial DLB, suggesting that genetic factors can contribute to the disease.
Understanding the role of these genes in DLB can provide important insights into the disease’s pathogenesis. For example, the SNCA gene encodes for alpha-synuclein, a protein that forms the hallmark Lewy bodies in DLB. Mutations in this gene can result in the production of abnormal alpha-synuclein, leading to Lewy body formation.
Similarly, mutations in the GBA gene, which encodes for an enzyme called glucocerebrosidase, have been associated with an increased risk of DLB. While the exact mechanisms are unclear, it is believed that these mutations can contribute to alpha-synuclein accumulation, thereby promoting Lewy body formation.
This genetic information can have several implications. In terms of diagnosis, genetic testing may be useful in certain cases, particularly those with a strong family history.
From a therapeutic perspective, understanding the genetic mechanisms can inform the development of targeted therapies aimed at modifying these genetic pathways. In terms of prognosis, genetic factors may also influence disease progression and severity, although more research is needed in this area. (9)
