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Protein misfolding diseases

When certain proteins fail to fold into a shape that allows them to function, fatal disease may result. Many of these diseases affect the brain, for example Alzheimer’s disease. The older you get the greater the chance this might happen to you. But why? And can we do anything to prevent these ‘protein misfolding disorders’?

An elderly man doing a test to assess the progress of his Alzheimer’s disease.
BSIP MENDIL/SPL

senility has long been associated with old age. We all accept that our mental capabilities will decline as we get older. Simple forgetfulness is readily tolerated by the sufferer and those around them. But as the average age of the human population continues to increase, so does the occurrence of much more severe brain malfunctions. Such malfunctions — dementias — lead to a significant loss in quality of life and in many cases are terminal. The commonest age-related dementia is Alzheimer’s disease. First recognised in 1901 by the German psychiatrist Alöis Alzheimer, this devastating disease leads to brain degeneration, mental impairment and ultimately death. What causes this disease? Why is its occurrence increasingly likely as you get older? Can it be prevented, or even cured? These are all questions being asked by the general public and research scientists alike. Encouragingly, answers are finally beginning to emerge.

When considering these questions we must bear in mind that Alzheimer’s disease is not the only neurodegenerative disease linked to ageing in humans. Other such diseases include Huntington’s disease and amyotrophic lateral sclerosis (a motor neurone disease), both of which lead to severe movement defects. These diseases have different symptoms but both arise as a consequence of the misfolding and subsequent clumping together (aggregation) of a particular protein. Rather than arising from an infection due to invasion of the body by a virus or a bacterium, these diseases are of the body’s own making. Alzheimer’s disease and related diseases are often referred to as ‘protein misfolding disorders’ (see Table 1).

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A chromosome mutation

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The luck of the draw: chance, probability and statistics

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