What is it about?

Chronic kidney disease (CKD) is a major health problem linked to serious issues like heart disease, anemia, and early death. It is often classified into stages based on kidney function. According to the estimated glomerular filtration rate (eGFR), 78% of the patients in this study were in stage 5, while the rest were in stage 4 of CKD. The study investigated a mitochondrial gene called MT-ATP6 in CKD patients and healthy individuals. Several new and reported mutations were found. Some of these mutations in CKD patients were predicted to be harmful and may play a role in causing the disease, while those found in healthy people were not harmful. These results suggest that specific MT-ATP6 mutations are linked to CKD development.

Featured Image

Read the Original

This page is a summary of: Association of MT-ATP6 gene mutations with the pathogenesis of chronic kidney disease in human, Human Gene, May 2023, Elsevier,
DOI: 10.1016/j.humgen.2023.201155.
You can read the full text:

Read

Contributors

The following have contributed to this page