Drug Repurpose Update #1 – Tanganil ® (Acetyl-Leucine) for potential management of SynGAP1-related disorder symptoms

[Bolt_Upright]

There are two articles and both are very interesting and have a lot of understandable gobbledygook in them. I don't know if this is actionable, but it is worth being aware of.

Drug Repurpose Update #1 – Tanganil ® (Acetyl-Leucine) for potential management of SynGAP1-related disorder symptoms curesyngap1.org/blog/drug-r...

Drug Repurposing Update #2 – Tanganil ® (Acetyl-Leucine) – Potential Mechanisms of Drug Action curesyngap1.org/blog/drug-r...

[Boscoejean]

"N-acetyl leucine may help correct the microbiome by influencing the activity and population of certain gut bacteria, particularly by potentially suppressing harmful bacterial species like Desulfobacterota, while potentially promoting beneficial bacteria by providing a readily available nutrient source, thereby helping to restore a balanced gut microbiota; research suggests this effect is primarily mediated through the gut-brain axis, impacting neurological function as well"

sciencedirect.com/science/a...

[Rufous2]

The FDA has approved acetyl-leucine, as a drug for Niemann Pick disease called Aqneursa.

[Boscoejean in reply to Rufous2]

"Niemann-Pick disease is a rare genetic condition that affects lysosomes, which are organelles in cells that break down and recycle molecules"

"Is Parkinson’s disease a lysosomal disorder?"

pmc.ncbi.nlm.nih.gov/articl....

"Common forms of Parkinson’s disease have long been described as idiopathic, with no single penetrant genetic factor capable of influencing disease aetiology. Recent genetic studies indicate a clear association of variants within several lysosomal genes as risk factors for idiopathic Parkinson’s disease. The emergence of novel variants suggest that the aetiology of idiopathic Parkinson’s disease may be explained by the interaction of several partially penetrant mutations that, while seemingly complex, all appear to converge on cellular clearance pathways. These newly evolving data are consistent with mechanistic studies linking α-synuclein toxicity to lysosomal abnormalities, and indicate that idiopathic Parkinson’s disease resembles features of Mendelian lysosomal storage disorders at a genetic and biochemical level. These findings offer novel pathways to exploit for the development of disease-altering therapies for idiopathic Parkinson’s disease that target specific components of the lysosomal system."

"Parkinson’s disease genes that disrupt mitochondrial function can lead to reactive oxygen species (ROS) or dopamine-o-quinone (DAQ) that can damage lysosomal machinery, leading to α-synuclein aggregate formation"

[park_bear in reply to Boscoejean]

genome.gov/genetics-glossar....

"Now, the lysosome is a specific type of organelle that's very acidic. So that means that it has to be protected from the rest of the inside of the cell. It's a compartment, then, that has a membrane around it that stores the digestive enzymes that require this acid, low-pH environment. Those enzymes are called hydrolytic enzymes, and they break down large molecules into small molecules. For example, large proteins into amino acids, or large carbohydrates into simple sugars, or large lipids into single fatty acids. And when they do that, they provide for the rest of the cell the nutrients that it needs to... So, for example, if you can't do that, it can't break down large molecules into small molecules. You'll have storage of those large molecules, and this is a disease. "

I believe the Lewy Body is a failed lysosome. More on the Lewy Body: healthunlocked.com/cure-par....

[Boscoejean in reply to Rufous2]

This article is about Aqneursa being approved in Niemann Pick and it has a fairly detailed explanation of how it works.

"Aqneursa isn’t a cure, Fields said, but it does have “disease modifying neural protective” properties."

fireflyfund.org/austins-int...

[Rufous2 in reply to Boscoejean]

Precisely why there's been a lot of excitement about the molecule here on CP.