Quality Surveillance

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI:
Quality Surveillance

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  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics


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Protein and organelle quality surveillance coupled with degradation of misfolded proteins or damaged structures are important for maintenance of cellular function and health of the organism. Cuervo (2008) reviewed cellular surveillance processes that utilize chaperones, autophagy, and proteolytic systems.

Chaperones assist in protein folding; they also facilitate transport of damaged proteins to sites of degradation. Degradation systems include the ubiquitin proteasome system and the lysosomal system. Lysosomes play a key role in cellular autophagy. These organelles with their content of hydrolases, including proteases and lipases, are particularly important for degradation of macromolecules and cellular components. Cuervo (2008) reported that during the previous decade significant progress was made in the identification of genes that encode products involved in autophagy.

Autophagy plays a role in the cellular remodeling required during differentiation and embryogenesis. It is also important in determining immunity. Changes in autophagy systems that occur in aging are in part caused by down-regulation of specific genes. Malfunction of autophagy occurs in several forms of neurodegeneration and in muscle disorders that are characterized by accumulation of abnormal aggregates.

Chapter.  5575 words.  Illustrated.

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

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