The Role of Body Complexion and Circulating Lipids in FTD and ALS

Published on March 25, 2022

Imagine our bodies are like houses, with different exterior and interior features. In this study, scientists investigated how the complexion of our bodies (like the exterior appearance of the house) and circulating lipids (like the internal elements of the house) impact the risk of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). They found that certain body traits, such as mass and triglyceride levels, were associated with a higher risk of FTD with TDP-43 aggregates, while circulating lipids, like LDL cholesterol, were linked to a higher risk of ALS. Furthermore, they discovered genetic variants that were shared between FTD and ALS in relation to body complexion and circulating lipids. This research suggests that targeting body lipid metabolism may be a potential approach to controlling FTD and ALS. Additionally, the identification of HNRNPK as a potential link to these disorders opens up exciting possibilities for further investigation. To learn more about this fascinating study, check out the full article!

ObjectiveFrontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two distinct degenerative disorders with overlapping genetics, clinical manifestations, and pathology, including the presence of TDP-43 aggregates in nearly 50% of patients with FTD and 98% of all patients with ALS. Here, we evaluate whether different genetically predicted body lipid metabolic traits are causally associated with the risk of FTD with TDP-43 aggregates, compare it to their causal role in the risk of ALS, and identify genetic variants shared between these two TDP43 related disorders in relation to lipid metabolic traits.MethodsWe conducted two-sample Mendelian randomization analyses (2SMR) to evaluate the causal association of 9 body complexion and 9 circulating lipids traits with the risk of FTD with TDP-43 aggregates and the risk of ALS. The inverse-variance weighted method was the primary analysis, followed by secondary sensitive analyses. We then looked for common genetic variants between FTD and ALS in relation to lipid metabolic traits.ResultsGenetically increased trunk-predicted mass, fat-free mass, and higher circulating triglycerides levels were suggestively associated with a higher risk of FTD with TDP-43 aggregates. Circulating lipids, mainly LDL cholesterol, were causally associated with a higher risk of ALS. We identified two genetic variants, EIF4ENIF1 and HNRNPK, in relation to body complexion and circulating lipids shared between FTD with TDP-43 aggregates and ALS.ConclusionThis work provides evidence that body complexion and circulating lipids traits impact differentially on the risk of FTD and ALS, suggesting new and specific interventional approaches in the control of body lipid metabolism for FTD and ALS, and identified HNRNPK as a potential link between circulating lipids levels and these disorders.

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