Genetic Mutation Underlying Debilitating Childhood Brain Disorder

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Most brain disorders arise due to a mix of genetic, environmental, and lifestyle factors. Inheriting the genetic predisposition to develop a brain disease does not always mean that any person will have the symptoms of the disease, and the symptoms for some brain diseases may vary even in the same family. While we do not yet know the genetic causes of all brain diseases, we do know that in some families, there are many individuals who develop a specific disorder, for example, Alzheimer disease (AD), which tends to follow a similar medical course. For other disorders, it may be more unusual to find more than one person with the disease in any given family or the disorder may manifest itself differently in related family members. Many studies these days include whole exome or whole genome sequencing, where hundreds of differences in the genetic code can be detected. Other studies may look at another single gene or panel of genes that seem promising to the investigator. Another tool that may be used is to detect how the genes are expressed in the body. Scientists also are looking into environmental factors and how they play into the regulation of the genes. All of these methods yield results that then have to be analysed together to reveal the causes, and hopefully the paths to treatment, for brain disorders.
Alzheimer Disease
For Alzheimer disease, we know that around 5% of people who have the disease develop symptoms at a very young age, before the person is 60 years old. This early-onset AD patients sometimes do not have a family history of AD, but often they do know that the disorder has been passed from parent to child. Several genes have been found to harbor mutations in families with early-onset AD.

 

Multiple Sclerosis

Multiple sclerosis (MS) is another more common debilitating brain disease. A person with multiple sclerosis is more likely to be female than male, and the onset of symptoms, for example, weakness and numbness, is more likely to occur between ages 20 and 40 years. While some familial cases have been found, the majority of affected individuals are the sole person in a family with MS. In this disease, the body’s own immune system causes damage to the protective cover surrounding the nerves.


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