Abstract

The paper gives an update on the occurrence and development of Alzheimer’s disease (AD), a condition manifesting itself as a steady reduction in memory. AD is common in the modern population. The reason for its higher incidence rate is the specific features of the current information sphere. Genetic factors that both directly lead to the development of AD and indirectly influence its occurrence are also imperative. At the present time, the genetic bank of mutations associated with the development of AD contains information on more than 300 different mutations. Genetic predetermination of this disease has a negative impact on prognosis and prospects for patient treatment. Patients and methods . The distribution of hereditary forms of AD in a Russian population was analyzed at the Clinic of Nervous System Diseases, I.M. Sechenov First Moscow State Medical University. The investigation enrolled 46 patients (13 men and 33 women) who met the international criteria for AD; all had its proven hereditary history. The patients' mean age was 73.7±8.3 years in the men and 73.4±8.5 in the women; the mean disease duration was 29.6±12.4 and 28.0±18.8 months, respectively. The incidence of AD was estimated depending on age, comorbidity, degree of cognitive impairments, and pattern of the disease. Its history was rated using a questionnaire. No genome mapping was carried out. Results and discussion. The patients were divided into two groups: 1) presenile AD (age at its onset less than 65 years; n=8) and 2) senile AD (age at its onset more than 65 years; n=38). There was a preponderance of patients with mild dementia in both groups; however, in the patients with senile AD, the latter was diagnosed at the stage of moderate cognitive impairments in 7.9% of cases. Comorbidity was mild in all the patients. Depression and behavioral disorders were noted in half of the patients with AD; at the same time, behavioral and emotional disorders were significantly more common in the presenile and senile AD groups, respectively. The prevalence of senile AD was shown to be 4.7 times greater than that of presenile AD, as shown by our data). The performed investigation could reveal some features of the course and clinical presentation of both genetically determined AD as a whole and its senile and presenile forms in particular.

Highlights

  • В статье представлены современные данные о возникновении и развитии болезни Альцгеймера (БА) – заболевания, проявляющегося неуклонным снижением памяти

  • The reason for its higher incidence rate is the specific features of the current information sphere. Genetic factors that both directly lead to the development of AD and indirectly influence its occurrence are imperative

  • The genetic bank of mutations associated with the development of AD contains information on more than 300 different mutations

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Summary

Некоторые генетические аспекты развития и лечения болезни Альцгеймера

В статье представлены современные данные о возникновении и развитии болезни Альцгеймера (БА) – заболевания, проявляющегося неуклонным снижением памяти. Проведенное исследование позволило выявить некоторые особенности течения и клинической картины как генетически детерминированной БА в целом, так и, в частности, сенильной и пресенильной ее форм. 3. Мутация гена белка пресенилина 2 (PSEN2), лока- ной как γ-секретаза, по неамилоидному пути происходит лизующегося на 1-й хромосоме. Проведенные исследования показали, что мутации ге- ного β-амилоида, откладывающегося при БА как диффузнов пресенилина 1 и пресенилина 2 встречаются у 30–70% но, так и в сенильных бляшках в межклеточном пространпациентов с БА, мутации APP – менее чем в 5% случаев се- стве головного мозга [4, 15]. В значительной части случаев БА отмечается не- связан с амилоидогенезом, поскольку при избыточной аксколько генетических факторов, которые потенциально мо- кумуляции АРР в митохондриях в виде трансмембранного гут лежать в основе развития заболевания. В условиях патогенеза БА образование амилоидных бляшек является гипоксии митохондрии клеток начинают производить боль-

Генетические факторы
Активация медиаторов воспаления Развитие эксайтотоксичности
Способность патологического амилоидного белка к
Значительной проблемой БА
Неоконченное высшее
Findings
Номер визита
Full Text
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