Beta amyloid resurrected

Article Abstract:

A research report, appearing in the February 21, 1991 issue of Nature magazine, by Goate and colleagues reopens a debate concerning the genetic basis of Alzheimer's disease (AD), the most common age-related brain disorder. Since the proportion of people with AD increases steeply with increasing age, genetic factors may affect the age of symptom development. Families with late-onset AD provide the strongest evidence for a genetic basis; earlier research mapped the suspect gene to chromosome 21. The likely gene was thought to be the amyloid precursor protein (APP) gene, which encodes a protein precursor for amyloid beta-protein, an abnormal protein present in the plaques that are a main neuropathological correlate of AD. However, evidence from other families showed that recombination events, rather than a mutation, were associated with AD. The investigators in Goate's report studied genetic linkage in six early-onset families and excluded regions of chromosome 21 on either side of the APP gene, narrowing the focus once again to that gene. They then sequenced the part of the gene that contained the amyloid beta protein-encoding sequence, identified in an affected patient. A mutation was discovered that was present in the same gene in other family members, but was not found in any of 200 normal chromosomes, or in any chromosomes from late-onset AD. The next stage of investigation is to ascertain how common this mutation is in the general population and in cases of early-onset familial and non-familial AD. The significance of the recombinations involving chromosome 21 remains to be determined; perhaps there is another defective gene that causes these events. Amyloid-forming proteins are now implicated in several hereditary neurological disorders, including hereditary cerebral hemorrhage with amyloidosis and some forms of Creutzfeldt-Jakob disease. Definitive experiments are required. (Consumer Summary produced by Reliance Medical Information, Inc.)

Editorial, Genetic aspects, Alzheimer's disease

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Alpha-synuclein in Lewy bodies

Article Abstract:

Researchers have investigated the belief that alpha-synuclein, a presynaptic protein which is mutated in some familial cases of Parkinson's disease, may be the main element of the Lewy body in the disease. This involved strong staining of Lewy bodies from idiopathic Parkinson's disease with antibodies for alpha-synuclein. It was established that alpha-synuclein is a component of the Lewy body. There is an alanine to threonine mutation at residue 53 of alpha-synuclein in some familial cases of the disease.

Causes of

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The awakening of alpha-synuclein

Article Abstract:

Parkinson's disease is a neurodegenerative disorder, occurring in common sporadic form or the rarer familial form. A mutation in alpha-nuclein, a presynaptic protein, in the early onset inherited familial form, has been discovered in an Italian-American kindred, and in three unrelated Greek families. This discovery provides new insights into the pathogenesis of Parkinson's disease.

Drugs, Cellular Protein, In-Vitro Diagnostic Substance Manufacturing, Research, Cellular proteins, Proteins

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