Abstract
Four examples of Israeli communities or large families in which high consanguinity is common are presented, with two different lysosomal storage disorders within each community. In each of the four cases the stored substances share common chemical structure, despite the different lysosomal hydrolases involved in each disease. A similar phenomenon is known among the Ashkenazi Jews, in whom four of the most frequent hereditary disorders are lysosomal storage disorders, which are characterized by storage of sphingolipid derivatives. Similar findings are reported in the literature in other communities. We suggest that this phenomenon indicates a selection in favor of lysosomal storage disorders of similar nature in certain populations. The selection forces leading to this phenomenon have not been identified yet, and it has not yet been determined whether these forces are the same in the different communities presented here.
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Selected References
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- Andermann E., Scriver C. R., Wolfe L. S., Dansky L., Andermann F. Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res. 1977;18:161–188. [PubMed] [Google Scholar]
- Autio S., Visakorpi J. K., Järvinen H. Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients. Ann Clin Res. 1973 Jun;5(3):149–155. [PubMed] [Google Scholar]
- Chase G. A., McKusick V. A. Controversy in human genetics: founder effect in Tay-Sachs disease. Am J Hum Genet. 1972 May;24(3):339–340. [PMC free article] [PubMed] [Google Scholar]
- Knudson A. G., Jr Founder effect in Tay-Sachs disease. Am J Hum Genet. 1973 Jan;25(1):108–108. [PMC free article] [PubMed] [Google Scholar]
- Myrianthopoulos N. C., Naylor A. F., Aronson S. M. Founder effect in Tay-Sachs disease unlikely. Am J Hum Genet. 1972 May;24(3):341–342. [PMC free article] [PubMed] [Google Scholar]
- Renlund M., Aula P., Raivio K. O., Autio S., Sainio K., Rapola J., Koskela S. L. Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology. 1983 Jan;33(1):57–66. doi: 10.1212/wnl.33.1.57. [DOI] [PubMed] [Google Scholar]
- Sandhoff K., Christomanou H. Biochemistry and genetics of gangliosidoses. Hum Genet. 1979;50(2):107–143. doi: 10.1007/BF00390234. [DOI] [PubMed] [Google Scholar]