The genetic inheritance that could change the treatment of Alzheimer’s
The Ups and Downs of Alzheimer’s Disease: An Empirical Comparison of Genetic Changes in a Contraint Model of Family Life
In 1982, neurologist Francisco Lopera and his colleagues at the University of Antioquia in Medellín, Colombia, began studying a family for whom Alzheimer’s disease was a fact of life. At around 45 years of age members of the family develop mild cognitive impairment. The hallmark plaques and tangles in Alzheimer’s accumulate in their brains at an older age, which leads to dementia by the age of 50.
The mechanisms behind the protective effects of ApoE suggest that blocking the interaction between the two might help to treat Alzheimer’s disease.
The most common version of which Piedrahita had two is APOE3. However, hers was a rare variant called APOE3 Christchurch or APOE3Ch. This mutation affects how the APOE protein binds to a sugar–protein compound called HSPG, which helps tau to propagate through the brain. APOE3Ch showed the lowest affinity for HSPG of any form of the protein; APOE4 showed the highest3.
PSEN1 was not the only genetic variation she had. She had a form of the gene that was different. One form of this gene, APOE4, is a major risk factor for late-onset Alzheimer’s disease. Two other versions are associated with either lower risk (APOE2) or typically have no effect (APOE3).
But in every family, there is someone who goes against the grain. In this case, it is a person whose story challenges scientists’ understanding of Alzheimer’s disease pathology.
For a long time, this condition, in which memory loss and confusion build over time, was thought to be a natural consequence of aging. We know that neither is true. Although Alzheimer’s is not yet curable, a handful of treatments can slow its progression, and much work is being done to try to further turn the tide.
The first disease-modifying therapies for Alzheimer’s target the peptide amyloid-β, which clumps together in the brain. The cognitive decline occurs as a result of clearing these deposits. The challenge now is to combine drugs that target other aspects of the disease and anti-amyloid therapy to achieve stronger effects.
Another major breakthrough of the past five years is the development of blood tests that can distinguish Alzheimer’s from other forms of dementia. Although such diagnostics look set to become crucial tools for physicians and researchers, there are already concerns over their potential misuse, including by consumers.
The NEXUS Experiment at the Fermilab Tevatron Synchrotron Neutrino Observatory (FERMI) – Physics, Technology and Astrophysics
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A study has revealed that a rare variant of the APOE gene is involved in Alzheimer’s disease. The mutation affects how APOE protein binds to a sugar–protein compound, which helps tau to propagate through the brain. One form of the gene, APOE4, is a major risk factor for late-onset Alzheimer’s disease.