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New form of Alzheimer's disease discovered

November 04, 2003

According to Professor Matti Haltia, a new form of the hereditary disorder Alzheimer's disease, which paralyses the lower extremities of its victims, has been discovered in Finland. This disease has since also been discovered in many other countries. The disorder is caused by a new type of genetic defect, which leads to the accumulation of cotton-wool plaque in the cerebral cortex. These cotton-wool plaques lack the traditional Alzheimer plaques, i.e. an amyloid core. This discovery is altering the understanding of how Alzheimer's disease is formed. Haltia's research was part of the Academy of Finland's Research Programme on Ageing. Genetic research was conducted in co-operation with American professor John Hardy, who was the first to discover the genetic defect that causes Alzheimer's disease in 1991.

Professor Haltia and his research group have shown that Alzheimer's disease is even more common among people over 85 years of age than previously thought. Furthermore, the research found that a certain form of the LPL protein protects against cerebral infarction. This represents the first known common hereditary factor related to cerebral infarction.

Haltia's group research has also proven that the 'Pohjoinen' epilepsy discovered in the Kainuu region of Finland is a new NCL disease. The genetic defect that causes the disease was identified by the research group headed by Professor Anna-Elina Lehesjoki. Even in Finland, NCL diseases are some of the most common hereditary brain disorders among children. They lead to the accumulation of lipofuscin (ageing pigment) type material in nerve cells and the destruction of nerve cells. In this sense they may serve as models of ageing.

Professor Hilkka Soininen was the director of the Ageing Research Programme, which studied mild cognitive impairment (MCI), which is a preliminary stage of Alzheimer's disease. MCI has attracted interest as an intermediary stage between normal ageing and Alzheimer's disease. Approximately 10% of those suffering from MCI develop Alzheimer's disease every year.

The project looked at factors, which predict the transformation of MCI into Alzheimer's disease. It also examined the connection of lifestyle and cardiovascular disorder risk factors with MCI and the costs incurred by MCI. The study found that a high cholesterol levels and high blood pressure in middle age is a risk factor for developing Alzheimer's disease in old age, and that high cholesterol levels in middle age is also a risk factor for developing MCI.

The research of hereditary degenerative brain disorders helps in identifying the genes, which are also crucial to the normal function of the brain. Identifying defects in these genes allows for the simple and reliable diagnosis of these disorders. Genetic defects and hereditary risk factors also help in understanding the formation of the disorder at the molecular level. This is a prerequisite for the development of effective medications.

The Ageing Research Programme was conducted during the period 2000-2002. The programme consisted of 21 research projects from 12 universities and research institutes, and employed nearly 200 researchers. The project fields ranged from medicine to social sciences, pedagogics and architecture. The total programme budget was EUR 3.4 million, EUR 2.4 million of which was funded by the Academy. Other programme funders were the Ministry of Social Affairs and Health, Finnish Work Environment Fund, Social Insurance Institution of Finland (KELA), Ministry of Education, Ministry of the Environment and the Association of Finnish Local and Regional Authorities.

The purpose of the research programme was to use research to help society face the challenges that come with ageing. One key goal was to bring different scientific disciplines together to work toward solving the problems associated with ageing. The success of the programme was measured in terms of scientific and social relevance. An international evaluation panel felt that the co-operation of different scientific fields was extremely important. In the group's opinion three years was far too short a time to effectively complete multidisciplinary research projects.

The Academy of Finland intends to support and promote ageing research in the future. Next year, the Academy will participate in an extensive European ageing research co-operative funding network, which is being funded by the European Union.

Suomen Akatemia (Academy of Finland)