Does hereditary metabolic disease modulate senescence and ageing?
- C. R. Scriver
- … show all 1 hide
Purchase on Springer.com
$39.95 / €34.95 / £29.95*
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.
Hereditary metabolic diseases in the context of evolutionary biology elicit interesting questions about ageing and senescence: Will persons successfully treated for inborn errors of metabolism, age and die prematurely because of compromised longevity? Because some unhealthy longevity has its origins in germline and somatic mutational processes, and in an inability to withstand metabolic stress, are there lessons to be learned about senescence from hereditary metabolic disease? Why are ageing, senescence and death necessary for Homo sapiens and how do they happen?
These questions form the theme upon which several variations are played during the course of this essay. The theory of the disposable soma recognizes genomic and environmental events, well-seasoned by Chance, as determinants of ageing and senescence. Together, they cause the somatic damage that results in death. Genomics will reveal genes involved in longevity, both healthy and unhealthy. There will be schedules of gene expression behind our life-history traits. As in the field of hereditary metabolic disease, analogous genetic enquiries about ageing can be formulated. For example, how will heterozygotes age? Will association studies in centenarians reveal ‘longevity genes’? Will disparate longevity in sib pairs reveal genetic factors? If there are ‘ageing’ mutations, of what types and with what effects? Will these initiatives lead to healthier longevity? A deeper question yet remains: why has human biology invested so greatly in grandparenthood?
- Antonarakis S, McKusick VA (2000) OMIM passes the 1,000-disease-gene mark. Nature Genet 25: 11.
- Austad S (2000) Varied fates from similar states. Science 290: 944.
- Baird PA, Andersen TW, Newcombe HB, Lowry RB (1988) Genetic disorders in children and young adults: a population study. Am J Hum Genet 42: 677–693.
- Blackmore S. (1999) The Meme Machine. Oxford: Oxford University Press.
- Childs B (1999) Genetic Medicine. A Logic of Disease. Baltimore, MD: The Johns Hopkins University Press.
- Clancy DJ, Gems D, Harshman LG, et al (2001) Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein. Science 292: 104–106.
- Costa T, Scriver CR, Childs B (1985) The effect of Mendelian disease on human health: a measurement. Am J Med Genet 21: 231–242.
- Dawkins R (1989) Memes: the new replicators. The Selfish Gene, new edition. Oxford: Oxford University Press.
- Dennett DC (1997) Appraising grace. What evolutionary good is God? (Review of Burkert W. Creation of the Sacred:Tracks of Biology in Early Religions. Harvard University Press, 1996). The Sciences 37(1(Jan/Feb)): 39–44.
- Dobzhansky T (1973) Nothing in biology makes sense except in the light of evolution. Am Biol Teacher 35: 125–129.
- Finch CE. (1990) Longevity, Senescence, and the Genome. Chicago: TheUniversity of Chicago Press.
- Frum D (2000) Not young any more. Times Literary Supplement July 14: 12.
- Goldstein JL, Hobbs HH, Brown MS (2001) Familial hypercholesterolemia. In Scriver CR, Beaudet AL, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2863–2913.
- Hamilton WD (1966) The moulding of senescence by natural selection. J Theor Biol 12: 12–45.
- Hamilton WD (1996) Live now, pay later. The moulding of senescence by natural selection. Narrow Roads of Gene Land. The Collected Papers of W.D. Hamilton, vol. 1. Evolution of Social Behaviour. New York: WH Freeman/Spektrum.
- Hayes A, Costa T, Scriver CR, Childs B (1985) The effect of Mendelian disease on human health. II. Response to treatment. Am J Med Genet 21: 243–255.
- Hodes R (2001) Molecular targeting of cancer: telomeres as targets. Proc Natl Acad Sci USA 98: 7649–7651.
- Hoeijmakers JHJ (2001) Genome maintenance mechanisms for preventing cancer. Nature 411: 366–374.
- IHGSC (The International Human Genome Sequencing Consortium) (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921.
- Jazwinski SM (1996) Longevity, genes, and aging. Science 273: 54–59.
- Jimenez-Sanchez G, Childs B, Valle D (2001a) The effect of Mendelian disease in human health. In Scriver CR, Beaudet AL, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 167–174.
- Jimenez-Sanchez G, Childs B, Valle D (2001b) Human disease genes. Nature 409(Feb 15): 853–855.
- Jones SJM, Riddle DL, Paizyrev AT, et al (2001) Changes in gene expression associated with developmental arrest and longevity in Caenorhabditis elegans. Genome Res 8(Aug 11): 1346–1352.
- Kelner KL, Marx J (1996) Patterns of aging. Science 273: 41.
- Kirkwood TBL (1985) Comparative and evolutionary aspects of longevity. In Finch CE, Schneider EL, eds. Handbook of the Biology of Aging, 2 edn. New York: Van Nostrand Reinhold.
- Kirkwood TBL, Holliday R (1979) The evolution of ageing and longevity. Proc R Soc Lond Biol Sci 205(1161): 531–546.
- Lithgow GJ, Kirkwood TBL (1996) Mechanisms and evolution of aging. Science 273: 80.
- Lopez AD and Murray CCJL (1998) The global burden of disease, 1990–2020. Nat Med 4(11): 1241–1243.
- Martin GM (1978) Genetic syndromes in man with potential relevance to the pathobiology of aging. Birth Defects 14: 5–39.
- Martin GM (1994) Genetic modulation of telomeric terminal restriction-fragment length: relevance for cloning, aging and late-life disease. Am J Hum Genet 55: 866–869.
- Martin GM (2001) Genetics and aging. In Scriver CR, Beaudet AL, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 215–223.
- Martin GM, Austad SN, Johnson TE (1996) Genetic analysis of aging: role of oxidative damage and environmental stresses. Nature Genetics 13: 25–34.
- Medawar PB (1946) Old age and natural death. Modern Quarterly 1: 30–56.
- Medawar PB. (1952) An Unsolved Problem of Biology. London: HK Lewis.
- Melino G (2001) The Sirens' song. Nature 412: 23.
- Olshansky J, Carnes BA, Butler RN (2001a) If humans were built to last. Sci Am 284(3): 50–55.
- Olshansky SJ, Carnes BA, Desesquelles A (2001b) Prospects for human longevity. Science 291: 1491–1492.
- Scriver CR (1984) The Canadian Rutherford Lecture. An evolutionary view of disease in man. Proc R Soc Lond. B 220: 273–298.
- Scriver CR (1989) The salience of Garrod's 'molecular groupings' and 'inborn factors in disease'. J Inherit Metab Dis 12(Supplement 1): 9–24.
- Scriver CR (1995) American Pediatric Society Presidential Address 1995: Disease, war, and biology: Languages for Medicine — and Pediatrics. Pediatr Res 38(6): 819–829.
- Scriver CR (2001) Garrod's insight; our hindsight. J Inher Metab Dis 24: 93–116.
- Scriver CR, Treacy EP (1999) Is there treatment for 'genetic' disease? Mol Genet Metab 68: 93–102.
- Slagboom PE, Droog S, Boomsma DI (1994) Genetic determination of telomere size in humans: a twin study of three age groups. Am J Hum Genet 55: 876–882.
- Smith JR, Pereira-Smith OM (1996) Replicative senescence: implications for in vivo ageing and tumor suppression. Science 273: 63–67.
- Sohal RS, Weindruch R (1996) Oxidative stress, caloric restriction, and aging. Science 273: 59–63.
- Solter D, Gearhart J (1999) Putting stem cells to work. Science 283: 1468–1470.
- Spillman BC, Lubitz J (2000) The effect of longevity on spending for acute and long-term care. N Engl J Med 342(19): 1409–1415.
- Stearns SC (1992) The Evolution of Life Histories. New York: Oxford University Press.
- Stuart RO, Bush KT, Nigam SK (2000) Changes in global gene expression patterns during development and maturation of the rat kidney. Proc Natl Acad Sci USA 98: 5649–5654.
- Tatar M, Kopelman A, Epstein D, et al (2001) A mutant Drosophila insulin receptor homolog that extends life-span and impairs neuroendocrine function. Science 292: 107–109.
- Thomas ED (1999) Does bone marrow transplanation confer a normal life span? N Engl J Med 341(1): 50–51.
- Treacy EP, Valle D, Scriver CR (2001) Treatment of genetic disease. In Scriver CR, Beaudet AL, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 175–191.
- Wallace DC (1997) Mitochondrial DNA in aging and disease. Sci Am 277(2): 40–47.
- Wallace DC, Lott MT, Brown MD, Kerstann K (2001) Mitochondria and neuro-ophthalmological diseases. In Scriver CR, Beaudet AL, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 2425–2509.
- Williams GC (1957) Pleiotrophy, natural selection, and the evolution of senescence. Evolution 11: 398–411.
- Wilmoth JR (1998) The future of human longevity: a demographer's perspective. Science 280: 395–397.
- Does hereditary metabolic disease modulate senescence and ageing?
Journal of Inherited Metabolic Disease
Volume 25, Issue 3 , pp 235-251
- Cover Date
- Print ISSN
- Online ISSN
- Kluwer Academic Publishers
- Additional Links
- Industry Sectors
- C. R. Scriver (1) (2)
- Author Affiliations
- 1. Departments of Human Genetics, Paediatrics and Biology, McGill University and McGill University Health Centre, Montreal, Quebec, Canada
- 2. Rm. A-721, Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec, Canada, H3H 1P3