Lysosomal storage disease: revealing lysosomal function and physiology.
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept. Here, we review some of the history and pathophysiology of lysosomal storage disorders to show how they have impacted on our knowledge of lysosomal biology. Although a significant amount of information has been accrued on the molecular genetics and biochemistry of lysosomal storage disorders, we still do not fully understand the mechanistic link between the storage material and disease pathogenesis. However, the accumulation of undegraded substrate(s) can disrupt other lysosomal degradation processes, vesicular traffic, and lysosomal biogenesis to evoke the diverse pathophysiology that is evident in this complex set of disorders.
Parkinson-Lawrence
Emma J
EJ
Cell Biology of Disease Research Group, Sansom Institute for Health Research, Division of Health Science, University of South Australia, Adelaide, Australia.
Shandala
Tetyana
T
Prodoehl
Mark
M
Plew
Revecca
R
Borlace
Glenn N
GN
Brooks
Doug A
DA
D006801:Humans; D016464:Lysosomal Storage Diseases / Q000473:pathology* / Q000503:physiopathology*; D008247:Lysosomes / Q000473:pathology* / Q000502:physiology*