Л.Хестон из Медицинской школы Миннесотского университета

Л.Хестон из Медицинской школы Миннесотского университета путем обследования и опроса собрал информацию о родителях, братьях и сестрах, детях и родственниках второй степени родства 125 пациентов (из разных семей), которые умерли в государственных больницах и частных клиниках шт. Миннесота за период с 1952 по 1972 г. от болезни Альцгеймера, причем диагноз был подтвержден аутопсией. К 1981 г. 87 человек заболели слабоумием; во всех случаях, когда проводилось посмертное вскрытие, диагноз был — болезнь Альцгеймера.

Примечательно, что все обнаруженные случаи заболевания произошли среди родственников 51 из 125 пациентов. Это означает, что у — 40% последних болезнь имела семейный характер. Возможно, они несли ген, вызывающий одну из форм болезни. Не исключено, что болезнь Альцгеймера обусловлена экспрессией не одного гена, и ген, имевшийся у 51 пациента, просто увеличивал вероятность экспрессии другого, более распространенного гена, ответственного за «несемейный» вариант болезни. Дж. Брейтнер и М. Фолстайн из Медицинской школы Университета Джонса Гопкинса в своих исследованиях пришли к выводу, что существуют две разные формы болезни Альцгеймера: относительно легкая несемейная форма, обычно поражающая очень старых людей, и наследственная форма, на долю которой приходится примерно три четверти всех случаев заболевания. Они подсчитали, что для человека, имеющего больного родителя, брата или сестру, вероятность заболеть к 80-летнему возрасту составляет примерно 17*%.

Кроме эпидемиологических данных, генетическая модель поддерживается также тем фактом, что почти у всех людей, страдающих известным генетическим заболеванием — синдромом Дауна, примерно к сорока годам развивается и болезнь Альцгеймера. Противоречит этой модели то обстоятельство, что до сих пор не обнаружено ни белка с нарушенной функцией, ни хромосомной аномалии, которые были бы связаны с болезнью Альцгеймера.

 

 

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