Publications by authors named "D K Springer"

Introduction: In USA, six million individuals with Sub-Saharan ancestry carry two high-risk variants, which increase the risk for kidney diseases. Whether APOL1 high-risk variants are independent risk factors for cardiovascular diseases is unclear and requires further investigation.

Methods: We characterized a mouse model to investigate the role of APOL1 in dyslipidemia and cardiovascular diseases.

View Article and Find Full Text PDF

Model organisms such as are powerful tools to study the genetic basis of sleep. Previously, we identified the genes and using selective breeding for long and short sleep duration in an outbred population of . is a transcription factor that is part of the epidermal growth factor receptor signaling pathway, while is involved in proline and arginine metabolism.

View Article and Find Full Text PDF
Article Synopsis
  • MUC1 and UMOD pathogenic variants are linked to autosomal dominant tubulointerstitial kidney disease (ADTKD), with MUC1 associated with a significant reduction in mucin-1 production.
  • A survey conducted among ADTKD patients revealed that those with ADTKD-MUC1 had a higher rate of previous COVID-19 infections and COVID-related deaths compared to ADTKD-UMOD individuals.
  • The study concluded that individuals with ADTKD-MUC1 are eight times more likely to die from COVID-19, suggesting that lower mucin-1 levels may contribute to this increased risk.
View Article and Find Full Text PDF

Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside. This accumulation occurs primarily in neurons, and leads to progressive neurodegeneration through a largely unknown process. Lysosomal storage diseases often exhibit dysfunctional mTOR signaling, a pathway crucial for proper neuronal development and function.

View Article and Find Full Text PDF

In the post-COVID-19 era, stakeholders, including policymakers, funders, and the public, are increasingly seeking for a cross-sectoral systems-based approach to health risks extending beyond conventional measures. Anchored on three health pillars -human, animal, and environmental- One Health offers a promising framework to effectively address this demand. While some nations have already implemented national One Health strategic plans, European countries, in general, are lagging behind the global agenda.

View Article and Find Full Text PDF