Publications by authors named "Javier Pelegrina"
Article Synopsis
- Lysosomal dysfunction is identified as a key mechanism in Parkinson's disease (PD), with reduced activity of the β-glucocerebrosidase (β-GCase) enzyme linked to the accumulation of harmful α-synuclein deposits.
- A study involving 42 PD patients and 37 healthy controls found that PD patients had about 20% lower activities of β-GCase and β-galactosidase, alongside decreased levels of the cofactors Prosaposin (PSAP) and Saposin C, which correlated with increased α-synuclein levels.
- Conversely, Cathepsin D activity was significantly higher in PD patients, suggesting that reduced PSAP levels disrupt lysosomal function, leading to this
Parkinson's disease (PD) is the second most common neurodegenerative disease, whose prevalence is projected to be between 8.7 and 9.3 million by 2030.
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- Researchers conducted a study on the genetics of Parkinson's disease (PD) in Southern Spain using a Genome-Wide Association Study with 240 PD patients and 192 controls.
- They identified genetic variations linked to PD risk and age at onset, finding significant associations at various genetic loci and confirming the impact of a high genetic risk score on PD vulnerability.
- The study also revealed runs of homozygosity in PD-related regions and confirmed the presence of known genetic variants associated with PD, contributing valuable insights into the genetic architecture of the disease in this population.