What
Is Alzheimer's Disease?
About half of the people in nursing homes and almost half of all people
over 85 have Alzheimer's disease. It is now the fourth leading cause of
death in adults and, unless effective methods for prevention and treatment
are developed, Alzheimer's will reach epidemic proportions by the middle
of the next century. Alzheimer's disease is a degenerative disease of the
brain from which there is no recovery. Slowly and inexorably, the disease
attacks nerve cells in all parts of the cortex of the brain, as well as
some surrounding structures, thereby impairing a person's abilities to
govern emotions, recognize errors and patterns, coordinate movement, and
remember. At the last, an afflicted person loses all memory and mental
functioning. Two significant abnormalities have been observed in brains
of people who have died of Alzheimer's. Twisted nerve cell fibers, known
as neurofibrillary tangles, are found inside the nerve cells, or
neurons. These tangled fibers are the damaged remains of microtubules,
the support structure that allow the flow of nutrients through the neurons.
A mutated form of the protein known as tau is found in these tangles, and
some experts believe that this defective version attracts and holds normal
tau proteins that ordinarily help in the assembly of a healthy microtubule
structure. Glycosaminoglycans, which include the anti-blood clotting factor
heparin, may be important companions of tau in the development of these
tangled nerve fibers. The second significant finding is a high concentration
of patches called neuritic plaques located outside the nerve cells; surrounding
these plaques are the debris of dying neurons. The plaques are composed
of a long form of a sticky protein known as beta amyloid. Beta amyloid
itself is a chip from a larger protein called amyloid precursor protein
(PA). Some researchers think that beta amyloid may break into fragments
that release oxygen-free radicals * normal chemicals in the body that cause
many damaging processes when they are overproduced. In the brain, excess
amounts of free radicals leads to the breakdown of the membrane in the
nerve cells. Some work indicates that beta amyloid may cause narrowing
of blood vessels in the brain, thereby cutting off the blood supply and
killing nerve cells. Beta amyloid is also associated with reduced levels
of acetylcholine, a neurotransmitter. (Neurotransmitters are chemicals
that stimulate nerve cells to fire electric signals that pass messages
to and from the brain.) Acetylcholine is part of the cholinergic system,
essential to memory and learning, which is progressively destroyed in Alzheimer's
patients.
Tangled fibers, plaques, or both are found in nearly everyone over 90,
in some otherwise normal middle-aged and older people, and in the brain
tissue of people suffering from other conditions. In Alzheimer's patients,
however, plaques are in very concentrated forms and their presence seems
to be related to a depletion of the neurotransmitter acetylcholine.
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What
Causes Alzheimer's Disease?
Genetic
Factors and Beta Amyloid
The major target for research on genetic factors has been the apolipoprotein
ApoE4, a subtype of ApoE, which plays a role in the movement and distribution
of cholesterol for repairing nerve cells during development and after injury.
The gene for ApoE comes in three possible types: ApoE2, ApoE3, and ApoE4;
people inherit a copy of one type from each parent. ApoE4 has been studied
for years as a risk factor for coronary artery disease, and, in fact, a
recent study found a link between atherosclerosis, dementia and Alzheimer's
disease, and ApoE4. It has been thought to play a major role in late-onset
Alzheimer's, but recent studies indicate it is only a risk factor for Alzheimer's
that develops before age 70 in people who carry two copies of the gene.
ApoE2 appears to have protective qualities, helping to maintain the structure
of tiny tubes that carry nutrients to and waste away from brain cells.
In the presence of ApoE4, however, the tubes may weaken and become less
efficient carriers of waste and nutrients to the brain cells, causing them
to break down. Deposits of beta amyloid are highest in people with ApoE4,
next highest in E3, and lowest in those with E2. Imaging techniques using
positron-emission tomography (PET) scans have found reduced activity in
specific areas in the brains of people with the double-ApoE4 gene. This
test does not predict who will develop Alzheimer's, however, since abnormalities
can be present without symptoms. People can even have dense deposits of
beta amyloid and still not exhibit signs of Alzheimer's.
The disease is not inevitable even in people with two copies of the ApoE4
gene. Reports vary in estimating the risk for those with E4. In people
without E4, the risk for developing Alzheimer's by age 85 ranges from 9%
to 20%, in those with one copy of the gene, the risk is between 25% and
60%, and in people with two copies, the risk ranges from 50% to 90% (only
2% of the population carry two copies of the E4 gene). Not everyone who
has late-onset Alzheimer's disease has the E4 gene, and many people with
E4 exhibit no signs of Alzheimer's. Alzheimer's patients who carry a copy
of the E4 gene appear to develop dementia at an earlier age than those
with the E3 gene; individuals with the E3 gene seem to develop the disease
at a younger age than those with the E2 gene. How fast the disease
progresses, however, does not seem to be related to the presence of the
E4 gene.
Researchers have identified a number of other defective genes responsible
for early-onset Alzheimer's, an uncommon but extremely aggressive form
of the disease; they are presinilin-1 (PS1), presinilin-2 (PS2), and amyloid
precursor protein (PA). Recent research has suggested that the mutated
presinilin gene may enhance apoptosis, a process that governs cell death,
in nerve cells. PS1 accounts or 80% of early-onset Alzheimer's and is associated
with increased amounts of beta amyloid, and some researchers believe that
this mutation may turn out to be common for all genetic forms of Alzheimer's
disease. Nearly all patients who inherit Down's syndrome develop Alzheimer's
if they live into their 40s. Women under the age of 35 who give birth to
children with Down's syndrome are also at much higher risk for Alzheimer's,
although mothers older than 35 who deliver children with this syndrome
are not.
Genetics factors play a major role but do not offer a complete answer to
the development of Alzheimer's. Environmental factors also appear to have
an effect.
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Environmental
Factors
Environmental and other nongenetic causes appear to contribute to Alzheimer's
disease. Alzheimer's disease is rare in West Africa, for instance, but
American descendants of West Africans have as high a rate of Alzheimer's
as other Americans. Alzheimer's disease also occurs less in the Native
American Crees and Cherokees and in people from China or Japan. A
study of Japanese men, however, showed that those who emigrated to the
U.S. experienced an increased rate of Alzheimer's.)
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Virus
Because a number of other degenerative neurologic diseases, such as kuru
and Creutzfeldt-Jakob disease, are caused by a slow, infectious virus,
researchers are exploring the viral route as a possible cause of Alzheimer's
disease. No evidence exists that Alzheimer's is transmissible, but a possible
scenario is a genetic susceptibility coupled with a breakdown of the immunologic
system that leaves a person vulnerable to such a virus. One study has indicated
that herpesvirus 1 may provide this link; its results found that
the risk for Alzheimer's is very high in people with ApoE4 who also have
evidence of this virus, but risk is normal in those with only one of these
factors.
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Metals
In spite of some early concern that aluminum may have some role in
Alzheimer's,
studies have found no relationship between the development of Alzheimer's
and exposure to aluminum in cooking, occupational work, or drinking water.
Alzheimer's does create a condition that results in aluminum ions replacing
iron ions and accumulating in cells, therefore possibly contributing to
already existing dementia. Some researchers believe that excessive amounts
of zinc may promote formation of amyloid plaques. In one experiment, this
process was accelerated when zinc was combined with aluminum silicate,
a substance found in non-dairy creamers and nonprescription antidiarrhea
medications. Abnormal zinc metabolism has also been found in Alzheimer's
patients.
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Electromagnetic
Fields
Some studies have reported a higher incidence of Alzheimer's in people
exposed to intense electromagnetic fields. Some researchers believe that
magnetic fields may interfere with the concentration of calcium inside
cells, and others believe that they may increased production of beta amyloid.
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Inflammatory
Response
Some researchers are directing their attention to the inflammatory response,
a process which normally activates the immune system to attack infections
and other microscopic invaders. In some cases, however, the process goes
awry and the immune system attacks the body's own tissue * in the case
of Alzheimer's, possibly its own brain tissue.
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Gender
A recent study suggests that Alzheimer's disease risk factors may be different
in women and men. The women at greatest risk were those who had a
copy of ApoE4, a history of high blood pressure, a low level of education,
and no estrogen replacement therapy.
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Head
Injury
Injury to the head can accelerate the development of Alzheimer's in people
who are already susceptible to it.
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Atherosclerosis
A recent study found a link between atherosclerosis, or hardening of the
arteries, and Alzheimer's, particularly in people who carry the ApoE4 gene.
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