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Rediscovering ADSLD, Recording 7, Dr. Matteo Bordi


Dr. Matteo Bordi presents recent research on mitochondrial metabolism in ADSL deficiency, highlighting the complexity of ADSL Deficiency and the need for further research to understand its underlying mechanisms and potential treatments. He explained how mitochondrial morphology and activity are affected in ADSL-deficient cells, with more severe defects in cells from patients with more severe disease. The research team used various models, including human cells, fruit flies, and mice, to study the effects of ADSL deficiency. They found that over-expressing certain kinases could partially rescue mitochondrial defects in ADSL deficient cells.

 
 
 

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Disclosure:

This site is intended to provide basic educational information about Adenylosuccinate Lyase Deficiency Disorder (ADSLD). It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action regarding medical treatment or otherwise based on the information on this website without first consulting a physician.

 

The information contained in this site is intended for your general education and information only and not for use in pursuing any treatment or course of action. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).

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