Explaining the variable onset, manifestation, and progression of HD Huntington’s disease (HD) is caused by an expansion in the Huntington gene, which codes for the huntingtin protein. This gene contains a repeated span of three nucleotides, C-A-G, that encode for the amino acid glutamine. Individuals with an increased number of CAG repeats in the HD [...]
Individuals at risk for Huntington’s disease (HD) have the option of undergoing genetic testing, which detects the presence or absence of the genetic sequence that causes HD. The decision of whether or not to undergo genetic testing is intensely personal, with many factors to consider. This chapter will provide scientific background information regarding genetic testing for Huntington’s disease
Listen to this article in mp3 format here: An Introduction to DNA and Chromosomes Let’s start with the basics of genetics. The word “genome” refers to an organism’s complete set of DNA. The fundamental building block of our genome is the molecule known as DNA. You’ve no doubt heard of DNA many times before – in [...]
What causes the onset of HD? Current research shows that there is an abundance of information to be learned regarding the genetic origins of HD. Let’s trace HD’s beginnings from the molecular level, exploring the relationships between a gene, a protein, aggregation “clumps,” neural cell death, and the disease itself. An Explanation of Terms: Please [...]
In order to make predictions about the future spread or decline of Huntington’s Disease, we can draw upon scientific tools from the field of population genetics (see Part I for an introduction to this field). According to population genetics, genes that make it more difficult for an affected individual to survive to reproductive age will [...]
With their sword-wielding, karate-chopping, and pizza-eating ways, the Teenage Mutant Ninja Turtles swept American children by storm in the early 1990s. Unfortunately, though they did get kids to sit still for 30 minutes each day, the turtles also contributed to a widely held public misconception about what it means to have a mutation. From watching [...]
What is a Genome? A genome is the complete set of DNA in an organism. The HOPES article DNA and Chromosomes explains that DNA is the biological material that stores information about how to build and run a living organism. So a genome is all of the genetic information for one organism. Every living thing, from [...]
Listen to this article in mp3 format: Population Genetics and Huntington’s Disease Have you ever wondered where Huntington’s disease originated? Or why it’s predominantly found among Europeans and those of European descent? Population genetics, the study of the genetic makeup of populations and of changes over time in that makeup, attempts to answer such questions. In [...]
Proteins are very important molecules to all forms of life. They are one of four of life’s basic building blocks; the other three are carbohydrates (sugars), lipids (fats), and nucleic acids (DNA and RNA).