Генетска основа на Алцхајмеровата болест
Journal
Годишен зборник на Филозофски факултет во Скопје
Date Issued
2010
Author(s)
Abstract
Alzheimer's disease (AD) is an irreversible, progressive brain disease
that slowly destroys memory and thinking skills, and eventually even the
ability to carry out the simplest tasks. Neurodegeneration is estimated to start
20-30 years before clinical symptoms become apparent. The most common
neuropathological feature of AD is the presence of neurofibrillary tangles and
amyloid deposits that form plaques and cerebrovascular accumulations.
AD is divided into familial and sporadic forms. AD is considered familial
when more than one person in a family is affected, while sporadic refers
to AD cases when no other cases have been seen in close family members.
Almost all cases of sporadic AD are late-onset, while approximately
90% of familial AD is late-onset. Less than 10% of all AD cases are familial
early-onset. Familial early-onset AD is inherited in an autosomal dominant
manner, meaning that inheritance of one mutant allele of APP, PSEN1, or
PSEN2 almost always results in development of the disease. The most well
established genetic risk factor for development of sporadic late-onset AD is
inheritance of the ε4 allele of the apolipoprotein E (APOE) gene.
More than 300 genetic polymorphisms have been involved with AD,
demonstrating that this condition is polygenic and with a complex pattern of
inheritance.
Effort has been made to seek therapies that could reduce Aβ products by influencing
APP processing. The most hopeful advance in the research for
treatment of AD is the discovery of chemical compounds that show promise
in reducing amyloid formation or reducing tau phosphorylation.
There is still a long way between the huge amount of data gathered so
far and the actual application toward the full understanding of AD, but the
final goal is to develop precise tools for diagnosis and prognosis, creating new
strategies for better treatments based on genetic profile.
that slowly destroys memory and thinking skills, and eventually even the
ability to carry out the simplest tasks. Neurodegeneration is estimated to start
20-30 years before clinical symptoms become apparent. The most common
neuropathological feature of AD is the presence of neurofibrillary tangles and
amyloid deposits that form plaques and cerebrovascular accumulations.
AD is divided into familial and sporadic forms. AD is considered familial
when more than one person in a family is affected, while sporadic refers
to AD cases when no other cases have been seen in close family members.
Almost all cases of sporadic AD are late-onset, while approximately
90% of familial AD is late-onset. Less than 10% of all AD cases are familial
early-onset. Familial early-onset AD is inherited in an autosomal dominant
manner, meaning that inheritance of one mutant allele of APP, PSEN1, or
PSEN2 almost always results in development of the disease. The most well
established genetic risk factor for development of sporadic late-onset AD is
inheritance of the ε4 allele of the apolipoprotein E (APOE) gene.
More than 300 genetic polymorphisms have been involved with AD,
demonstrating that this condition is polygenic and with a complex pattern of
inheritance.
Effort has been made to seek therapies that could reduce Aβ products by influencing
APP processing. The most hopeful advance in the research for
treatment of AD is the discovery of chemical compounds that show promise
in reducing amyloid formation or reducing tau phosphorylation.
There is still a long way between the huge amount of data gathered so
far and the actual application toward the full understanding of AD, but the
final goal is to develop precise tools for diagnosis and prognosis, creating new
strategies for better treatments based on genetic profile.
Subjects
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