Freitag, 5. Juli 2013

Hypothesis testing: maple syrup urine disease, mTOR, autophagy and premature aging

As the title says, I am speculating here.

Maple syrup disease is a rare disorder (> 1:100 000) affecting branched-chain amino acid (BCAA) catabolism. The parent molecules and their keto-acids accumulate leading, among other issues, to leucinosis, neurologic symptoms and death unless treated with a low BCAA diet. Blood levels of these amino acids remain elevated despite treatment as far as I know and this could suppress autophagy via mTOR, I speculate.

Interestingly:
The BCAAs, especially leucine, are recognized as potent metabolic regulators of protein synthesis. This effect is mediated through mammalian target of rapamycin (mTOR)-dependent and mTOR-independent pathways (Kimball and Jefferson 2006). In the context of high BCAA levels experienced in MSUD, the effect on protein turnover has not been extensively studied.
http://link.springer.com/article/10.1007/s10545-011-9333-5/fulltext.html


Feel free to steal my idea, but do credit me and let me co-author.

If your urine smells funny, you can help science. Well, almost.

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