Thursday February 22, 2024
A brain disorder due to one mistake in your genes? Unfortunately it happens. The Brain Foundation supports important research to better understand and treat these hereditary brain disorders.
Every person has approximately 20 to 25 thousand genes. Together they form your DNA: the building blocks of the body that make you unique. Unfortunately, you can also inherit a gene with a mistake from one of your parents. That does not have to be a problem, but in rare cases this has major consequences for your brain: we call this a monogenetic brain disorder. ‘Mono’ means ‘one’ and ‘genetic’ is about our genes, or our building blocks of the body.
Huntington and SCA: an error in the DNA
Examples of monogenetic brain disorders include Huntington’s disease and spinocerebellar ataxia (SCA). We also call these brain disorders ‘autosomal dominant diseases’. By this we mean that one of the parents has this brain disorder and the child has a 50 percent chance of inheriting it. In other words: an error in your DNA causes one of your parents to develop a brain disorder. How does that work? A parent who has the brain disorder carries two different versions of the gene: one with the mutation (error) and one without the abnormality. You may inherit the healthy version from your father or mother, which means that you are not predisposed to the brain disorder. Do you inherit the version of the gene with the defect? Then you will develop the brain disorder during your lifetime.
Big consequences
Huntington’s disease and SCA-1 and SCA-3 are examples of hereditary brain disorders. These brain disorders have major consequences for a person’s life. Huntington’s disease causes people to have problems with their memory after a while. Their character can also change, for example because they are angry more often and faster. Most people with Huntington’s disease die 15-20 years after the first symptoms develop, for example from pneumonia, because you can no longer eat due to swallowing problems or you choke on a bite of food.
People with SCA-1 and SCA-3 often have difficulty with their balance and coordination of various movements, causing problems with walking, speaking and swallowing. Eye complaints such as double vision can also occur. The complaints slowly get worse. In other words, all three of these are serious brain disorders that are passed on from generation to generation. That is why research is very important. Fortunately, research into hereditary brain disorders has been conducted in the Netherlands for years. The Brain Foundation makes these studies possible thanks to donations from the Brugling Fund and the Leenders family.
Text: Tim van Boxtel
2024-02-22 15:18:12
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