Chaperones and Human Disease

It is clear that molecular chaperones assist with the folding of newly synthesized proteins and correct protein misfolding. Recent studies now suggest that defects in molecular chaperone/substrate interactions may also play a substantial role in human disease. For example, mutations linked to Alzheimer's disease have been shown to disrupt the expression of chaper-ones in the endoplasmic reticulum. In addition, several genes linked to eye degeneration diseases have recently been identified as putative molecular chaperones. see also Cell, Eukaryotic; Post-translational Control; Proteins; Ribosome; Translation.

Patricia L. Clark

Bibliography

Frydman, Judith. "Folding of Newly Translated Proteins In Vivo: The Role of Molecular Chaperones." Annual Review of Biochemistry 70 (2001): 603-647.

Wickner, Sue, Michael R. Maurizi, and Susan Gottesman. "Posttranslational Quality Control: Folding, Refolding, and Degrading Proteins." Science 286 (1999): 1888-1893.

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Internet Resources

"Chaperone." Nurse Minerva. <http://www.nurseminerva.co.uk/chaperon.htm>.

"Innovations." Environmental Health Perspectives. National Institutes of Health. <http://ehpnet1.niehs.nih.gov/docs/1994/l02-6-7/innovations.html>.

"Molecular Chaperones." Federation of American Societies for Experimental Biology. <http://www.faseb.org/opar/protfold/molechap.html>.

Chromosomal Aberrations

Chromosomal aberrations are abnormalities in the structure or number of chromosomes and are often responsible for genetic disorders. For more than a century, scientists have been fascinated by the study of human chromosomes. It was not until 1956, however, that it was determined that the actual diploid number of chromosomes in a human cell was forty-six (22 pairs of autosomes and two sex chromosomes make up the human genome). In 1959 two discoveries opened a new era of genetics. Jerome Lejeune, Marthe Gautier, and M. Raymond Turpin discovered the presence of an extra chromosome in Down syndrome patients. And C. E. Ford and his colleagues, P. A. Jacobs and J. A. Strong first observed sex chromosome anomalies in patients with sexual development disorders.

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