Publications by authors named "R J M Bindels"
Significance Statement: Several recent studies identified mitochondrial mutations in patients with Gitelman or Fanconi syndrome. Mitochondrial cytopathies are generally not considered in the diagnostic workup of patients with electrolyte disorders. In this systematic review, we investigated the presence of electrolyte disorders in patients with mitochondrial cytopathies to determine the relevance of mitochondrial mutation screening in this population.
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- This study investigates how short-chain fatty acids (SCFAs), specifically butyrate, affect magnesium (Mg) absorption in the intestines and its relationship with gut bacteria.
- Researchers found that higher butyrate levels in the colon correlate with lower serum magnesium levels in mice.
- The study reveals that butyrate inhibits Mg absorption by directly affecting a specific channel in gut cells, indicating that butyrate's influence on mineral absorption is independent of metabolic changes.
Article Synopsis
- - Gitelman syndrome is a rare genetic disorder linked to mutations in the SLC12A3 gene, leading to serious electrolyte imbalances, including low potassium and magnesium levels.
- - This study used long-read sequencing on DNA samples from suspected patients to identify a second pathogenic variant in cases where only one was previously found, significantly increasing the diagnostic yield.
- - The findings revealed that 67% of patients had a second variant, which often led to more severe symptoms, highlighting the importance of considering intronic variants and the potential need for updated genetic testing methods in diagnosing Gitelman syndrome.
Article Synopsis
- Magnesium (Mg) is a crucial intracellular cation involved in various essential cellular processes like protein synthesis, energy production, and DNA stability, and its imbalance can lead to cell growth issues and metabolic problems.* -
- The review highlights the differences and similarities between prokaryotic and eukaryotic Mg transporters, noting the conserved structures of several prokaryotic transporters and their evolutionary significance.* -
- In eukaryotes, Mg channels like TRPM6 and TRPM7 also play a vital role in Mg transport, integrating multiple regulatory pathways, emphasizing the importance of understanding both prokaryotic and eukaryotic systems for a comprehensive view of Mg transport mechanisms.*
Background: Previous research suggests that hypertension is more prevalent among patients with mitochondrial diseases. Blood pressure (BP) is linearly related to increased cardiovascular risk, and this relationship is strongest for SBP; nevertheless, studies on SBP and DBP in mitochondrial diseases have not yet been performed.
Method: In a retrospective case-control study design, BP in mitochondrial disease patients was compared with BP in a population cohort.