In order to answer most of these questions we have to take a deep dive into two main concepts that describe HD, it is a genetically inherited and neurodegenerative disease. Although some questions are still unanswered, these two concepts and what they imply will describe and explain most of the processes that happen in HD leading to the vastly varied and complex realities lived by affected families. In this first article we will focus on the genetic aspect of HD.
This expansion leads to the production of an abnormally long protein that becomes toxic, known as huntingtin. The section of the gene where this mutation happens is made up of smaller building blocks identified by the letters CAG, which is the sequence analyzed in the genetic test that can determine if someone has inherited the disease.
This expansion leads to the production of an abnormally long protein that becomes toxic, known as huntingtin. The section of the gene where this mutation happens is made up of smaller building blocks identified by the letters CAG, which is the sequence analyzed in the genetic test that can determine if someone has inherited the disease.
– Article written by Jarelys López
