Huntington’s Disease (HD) is a serious and currently incurable brain disorder that affects how people move, behave, and think. In most cases, it starts showing symptoms in a person’s 40s, and their life expectancy after that is around 15 to 20 years. However, it can also affect younger individuals in a more devastating way.
People who have the gene for HD are at a much higher risk of suicide, and sometimes their changing thinking abilities can lead to problems with the law.
It’s estimated that in Australia, there could be between 1,657 to 3,000 people with the HD gene in their DNA.
This disease is passed down through families, and if one parent has the faulty gene, their children have a 50% chance of inheriting it.
HD was first observed in families back in 1872, and we didn’t understand its genetics until 1983. In 1993, scientists found the huntingtin gene, which is the key to HD.
This gene has a repeating pattern of three of the four DNA building blocks (C, A, and G) on a specific part of chromosome 4. This is called a “trinucleotide repeat.” When this repeat is too long, it leads to the creation of a harmful protein called mHTT, which causes brain cells, especially neurons, to die.
Today, doctors can diagnose HD by examining a blood sample and checking for this specific repeating pattern on chromosome 4.
Why do I care to write about Huntington’s Disease? My late husband, Allan, had this condition. In his case, his blood test showed 49 CAG repeats, which is a clear sign of HD. Thankfully, we didn’t have children.
That is the path to me becoming a widow.
The Auld Skald's Fudgel 