Monday 29 October 2018

Chediak Higashi Syndrome


Proteins can move between compartments in different ways 




Proteins that exit the Golgi Apparatus: 3 Destinations

Signal mediated diversion to Lysosome via Endosome

Constitutive secretory pathway

Regulated secretion pathway



Lysosome





Lysosome: Garbage disposals for the cell digesting and recycling cellular waste 



Chediak Higashi Syndrome (Cuban and Japanese Physicians)

Abnormal intracellular protein transport

Defect in Lysosomal traffic regulator gene (LYST 1 gene)



Chediak Higashi (Intracellular Accumlations)

Abnormal protein transport






Abnormal intracellular protein transport: Infections/Albinism/Bleeding

Death before the age of 10


Snapshot





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