Scientists have found a genetic defect that is behind multi-organ disease, new research out last night.
The scientists at Queen Mary University of London (QMUL), England, has report a novel syndrome called sphingosine-1-phosphate lyase (SGPL1), which causes multi-organ disease particularly affecting the kidneys and adrenal glands.
Study participants from UK, Turkey, Pakistan, Spain and Peru had their DNA sequenced, which revealed the defective gene. However, in some patients kidney disease was dominant while in others adrenal dysfunction was the first symptom.
Lead researcher Dr Lou Metherell from QMUL’s William Harvey Research Institute said: “The disease seems to be progressive, in some of our patients there has been a loss of motor and cognitive skills over time. Interestingly, the same gene defect has been linked to Charcot-Marie-Tooth neuropathy in another subset of patients.
“Getting a genetic diagnosis for these patients will allow for correct treatment, genetic counselling and careful monitoring to ensure any new symptoms are picked up early.”
The study, which is published in the Journal of Clinical Investigation, highlights the importance of the sphingolipid pathway in adrenal and kidney function, suggesting a possible role in other tissues such as the brain and thyroid.
The researchers also found that the main characteristics of the human disease occurred in mice with the same genetic defect, which could be a useful model to test treatments for the disorder.
Sphingosine-1-phosphate lyase (SGPL1) mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome. Journal of Clinical Investigation 6 February 2017. [abstract]
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