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Traffic problems: inherited disease and intracellular trafficking defect

Published on January 19, 2015   29 min

A selection of talks on Clinical Practice

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0:00
My name is Paul Gissen, and I'm a Researcher at the UCL Laboratory for Molecular Cell Biology and Institute of Child Health. I'm also a Consultant in metabolic medicine in Great Ormond Street Hospital for Children. Today, I'm going to talk to you about traffic problems, inherited disease, and intracellular trafficking defect.
0:24
In this talk, we will discuss concepts and pathways in intracellular protein trafficking. We will also mention different disorders that are caused by specific trafficking abnormalities. I will also focus on ARC syndrome as an example of a trafficking disorder as this is the interest of my laboratory.
0:51
Intracellular protein trafficking is broadly divided into two steps, and they are directly opposite to each other. One of them is protein secretion in which polypeptides which are synthesized in the ribosomes are then folded and oligomerized in the ER, and then packaged into transport vesicles in the endoplasmic reticulum and travel to the Golgi complex. In the Golgi, it's the organ where post-translational modification occurs and then the proteins are sorted into various routes and then directed in various vesicles towards the membrane or other organelles of the cell. The endocytosis is where the proteins are internalized from the plasma membrane and then they can be recycled back into the membrane or maybe trafficked for degradation to lysosomes or transcytosed from the basal lateral to the apical membrane of the cell.

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Traffic problems: inherited disease and intracellular trafficking defect

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