Molecular genetics of familial Alzheimer disease

The American Journal of the Medical Sciences
B S Shastry

Abstract

Alzheimer disease (AD) is a genetically heterogeneous and progressive degenerative disorder of the brain. It affects approximately 4 million Americans and causes more than 100,000 deaths each year, and there is no cure. It is estimated that by the year 2020, 14 million Americans will be affected by the disease. Although the major pathology is confined to regions of the brain, some patients show an impaired sense of smell and selective loss of retinal ganglion cells. The biochemical processes that lead to AD are largely unknown. Genetic studies on inherited AD have identified three genes that when mutated can cause an early-onset form of the disease. Mutation of these genes has been shown to increase the production of a unique protein called beta-amyloid, which is the predominant component of neuritic plaques found in the brain of AD patients. Also, one susceptibility gene has been shown to be associated with the risk of late-onset AD in both familial and sporadic forms. The available data support to a large extent the amyloid cascade hypothesis as a mechanism of the disease pathology. The newly identified "AMY plaques" and the future identification of other susceptibility genes may give further clues to the neurodegenerative me...Continue Reading

References

Jan 1, 1990·Ophthalmology·A A Sadun, C J Bassi
Aug 21, 1986·The New England Journal of Medicine·D R HintonC A Miller
May 16, 1984·Biochemical and Biophysical Research Communications·G G Glenner, C W Wong
Oct 1, 1994·Current Opinion in Neurobiology·R Katzman
Oct 1, 1994·Current Opinion in Neurobiology·D J Selkoe
Sep 1, 1993·Neurobiology of Aging·A Cronin-GolombJ H Growdon
Jul 1, 1993·The Journal of Comparative Neurology·C DistlerK P Hoffmann
Dec 19, 1995·Proceedings of the National Academy of Sciences of the United States of America·J LiH Potter
Dec 10, 1996·Proceedings of the National Academy of Sciences of the United States of America·D LevitanI Greenwald
Mar 12, 1997·JAMA : the Journal of the American Medical Association·A J SlooterR Mayeux
Mar 12, 1997·JAMA : the Journal of the American Medical Association·M Morrison-BogoradN Buckholtz
May 2, 1997·The Journal of Biological Chemistry·S LehmannD A Harris
Mar 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·J Hardy
Jul 4, 1997·Science·W Roush

❮ Previous
Next ❯

Citations

Jun 2, 2005·Neurobiology of Aging·Zhi-Liang WuMary J Savage
Dec 15, 2000·Progress in Neurobiology·M F Mehler, S Gokhan
Jun 19, 2001·Neuroscience Letters·J Hardy, R Crook
May 7, 1999·Brain Research Bulletin·B S Shastry, F J Giblin
Oct 26, 2001·Drug Discovery Today·Naomi B. ZakAriel Darvasi
Dec 24, 2013·Pharmacology & Therapeutics·Andras Bilkei-Gorzo
Jan 31, 2015·International Journal of Molecular Sciences·Atsuko NakanishiSatoru Matsuda
Nov 10, 2000·Neurologic Clinics·W A Kukull, M Ganguli
Jun 13, 2015·Acta Neuropathologica·Mario M DorostkarJochen Herms

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alzheimer's Disease: Amyloid Beta

Alzheimer's disease is a neurodegenerative disease associated with the accumulation of amyloid plaques in the brain; these plaques are comprised of amyloid beta deposits. Here is the latest research in this field.

Alzheimer's Disease: APP

Amyloid precursor protein (APP) proteolysis is critical for the development of Alzheimer's disease, a neurodegenerative disease associated with accumulation of amyloid plaques in the brain. Here is the latest research on APP and Alzheimer's disease.