Cellular Nanomachines by Bhanu P. Jena

Author:Bhanu P. Jena
Language: eng
Format: epub
ISBN: 9783030444969
Publisher: Springer International Publishing

Disease Resulting from Alterations in Chaperonin

Mutations in genes encoding chaperones, or changes in the expression levels of chaperones, have been identified to result in a wide range of disorders [29–37]. Hereditary spastic paraplegia (HSP), for example, represents a broad range of human neurodegenerative disorders, some of which are caused by defects in paraplegin and spastin, both thought to function as Group I chaperones. Similarly, in McKusick–Kaufman syndrome where patients display heart and other ailments, the altered gene encoding the protein is analogous to a subunit of the Group II archaeal chaperonin [38, 39]. In X-linked retinitis pigmentosa where progressive degeneration of photoreceptive cells in the retina occurs, eventually leading to blindness, one among the five chaperones involved in the folding of tubulin is reported to be impaired via missense and/or protein truncation mutation [40, 41]. Deletion of the gene encoding chaperone protein Hsp27 has been found in patients with Williams syndrome where mental retardation, cytoskeletal abnormalities, facial dysmorphism, and arteriopathy among other disorders are observed [42]. In some cases of Charcot–Marie–Tooth disease characterized by peripheral nerve degeneration, Hsp27 has been found with a missense mutation [43]. Some form of cataracts results from misfolded proteins including crystallins in the lens of the eye [44–48]. These are just a few examples of pathologies linked to altered chaperonin function and resultant unfolded or misfolded proteins.

References

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Georgopoulos, C. P., Hendrix, R. W., Kaiser, A. D., & Wood, W. B. (1972). Role of the host cell in bacteriophage morphogenesis: Effects of a bacterial mutation on T4 head assembly. Nature: New Biology, 239, 38–41.

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