Learn about lysosomal storage diseases with this 3x3 grid

>> YOUR LINK HERE: ___ http://youtube.com/watch?v=tKOH01txrFQ

Most people learn about lysosomal storage diseases (LSDs) 1 by 1. • But with 70+ LSDs, this approach becomes overwhelming, making it hard to see patterns retain key information. • Let's develop a framework for understanding LSDs using this 3x3 grid. • Rows are the 3 main macronutrients, and columns are the proteins affected in LSDs (intraluminal hydrolases or membrane transporters). • Tip: the word acid is found in several lysosomal hydrolases (e.g. acid maltase, acid lipase, and acid sphingoymelinase), as the lysosome is an acidic environment. • Mucolipidoses II/III (impaired mannose-6-phosphate tagging that directs enzymes to lysosome) are not shown here. • Transcript: • Lysosomes are recycling centers that break down sugars, fats, proteins using enzymes called hydrolases. When one of these enzymes is not working, unrecycled waste builds up in the lysosome, causing disease. These LSDs can be classified based on the type of waste that builds up. • For example, glycogen is broken down into glucose by the enzyme acid maltase. This enzyme is missing in Pompe disease. • Deficiency of acid lipase, which breaks down fats, and cathepsin D, which breaks down proteins, can also lead to a lysosomal storage disease. • Some lysosomal hydrolases break down more complex molecules that are linked to special sugars. For example, glycosaminoglycans are long chains of sugars (glycans) linked to other sugars (aminoglycans). Sphingolipids have sugars linked to fats, and glycoproteins have sugars (glycans) linked to proteins. • The buildup of glycosaminoglycans causes mucopolysaccharidosis (e.g. Hunter, Hurler), while the buildup of sphingolipids causes the sphingolipidoses, which include Niemann Pick A and B, Gaucher, Fabry, Krabbe. The inability to remove sialic acid, also known as neuraminic acid, from glycoproteins causes sialidosis. • Sometimes the problem is that waste can't be transported out of the lysosome. For example, the inability of free sialic acid to leave the lysosome through the sialin transporter causes Salla disease. The Niemann Pick C proteins help cholesterol exit the lysosome. And the cystinosin transporter helps cystine, an amino acid derivative, leave the lysosome. This causes the disease cystinosis when deficient. • LSD overview: https://www.cell.com/cell/pdf/S0092-8... • Stay connected! Support our rare disease education efforts by subscribing to the StudyRare newsletter for monthly board-style questions: https://studyrare.substack.com/ • 🔔 Don’t forget to like, subscribe, and hit the notification bell for more rare disease education! • You can also support our work by subscribing to this channel, following StudyRare on X/Twitter (@studyrare), or buying us a coffee: https://ko-fi.com/studyrare • Learn more about our work at https://www.studyrare.com • Daniel

#############################

New on site