Publications by authors named "Jinbin Yan"
Preliminary Study on Clinical Characteristics and Pathogenesis of Mutations Patients.
Pharmgenomics Pers Med
May 2024
Background: The IQ motif and Sec7 domain ArfGEF 2 (), an X-linked gene that encodes the BRAG1 protein, is a guanine nucleotide exchange factor for the ADP ribosylation factor (ARF) protein family in the small guanosine triphosphate (GTP) binding protein. Mutations in this gene result in disorders such as intellectual disability (ID) and epilepsy. In this study, we analyze the clinical features of two patients with -mutation-related disease and discuss their possible pathogenesis.
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- - The study examined how uncoupling protein 2 (UCP2) levels changed in rat hearts preserved at low temperatures for 3-12 hours, revealing that UCP2 expression increased as preservation time lengthened.
- - The use of UCP2 inhibitor genipin prevented cardiac dysfunction and ATP production decline but did not affect mitochondrial reactive oxygen species (ROS), while SIRT1 protein levels decreased after hypothermic preservation.
- - Resveratrol, a SIRT1 activator, counteracted the increase in UCP2 and improved cardiac function during preservation, suggesting that regulating UCP2 through the SIRT1 pathway may provide protective effects for preserved hearts.
Article Synopsis
- Myocardial dysfunction in sepsis significantly raises the risk of mortality, and the enzyme ALDH2 is essential for heart protection from injury.
- In a study using male rats, LPS treatment led to decreased cardiac output and stroke volume, while ALDH2 activity dropped in a dose-dependent way, although its protein levels stayed the same.
- The specific ALDH2 activator, Alda-1, improved cardiac function and inhibited mitochondrial pore opening caused by LPS, suggesting that boosting ALDH2 activity could protect against LPS-induced heart dysfunction, likely by reducing iNOS expression and MPTP opening.