Over time, gradually progressive deterioration of the brain leads to the characteristic symptoms of Huntingtons disease.
Verywell / Laura Porter
Inheritance Pattern
Heredity is the only known cause of Huntingtons disease.
It is inherited in an autosomal dominant pattern.
Verywell / Laura Porter
Anyone who has the disease must have at least one copy of the disease-producing gene.
The genetic defect that causes Huntingtons disease is described as a CAG repeat in the HTT gene.
This is a mutation (alteration from the normal sequence) in thedeoxyribonucleic acid (DNA) molecule.
People who have juvenile Huntingtons disease have an average of approximately 60 CAG repeats in the HTT gene.
These proteins help maintain the normal structure of DNA and might help prevent CAG repeat mutations.
Huntingtons disease is associated with inflammatory destruction of brain cells that had previously been functional and healthy.
The defective huntingtin protein is believed to play a role in developing the disease.
In Huntingtons disease, a process described as autophagy takes place if cells are destroyed and then degenerate.
The genetic defect may either promote toxin production or result in inadequate protection from toxins.
Epub ahead of print.
