Neurobiology - PBL1 Assignment
Molecular Pathogenesis in Huntington’s Disease
Authors: S. N. Illarioshkin, S. A. Klyushnikov, V. A. Vigont, Yu. A. Seliverstov, and E. V.
Kaznacheyeva
Date of publication: May 21st, 2018
UPDATED: May 31st, 2018
Summary
Huntington’s disease, also known as HD, is a neurodegenerative disorder and an inherited
disease that causes progressive breakdown of nerve cells in the brain that causes a decrease in the
size of the basal ganglia and cerebral cortex. Given that neurons control our ability to move, feel,
and regulate activities in our bodies, a degeneration to nerve cell has an impact on all of these
functions which causes; movement disorders since neurons produce action potentials in order to
allow muscle contract as well as cognitive disorders since neurons are responsible with the
ability to -among other functions- produce speech which occurs in Broca’s area, more about that
in the next section. Due to the degeneration of neurons, the size of the Basal ganglia and cerebral
cortex are decreased. The worldwide prevalence of the disease is 0.38 pers 100,000 per year
(Pringsheim et al., 2012) . Huntigton’s is caused by a defect in a single gene and a person only
needs one copy of that defective gene to become a carrier which is why Huntigton’s is classified
as an autosomal dominant disorder in the central nervous system. The symptoms do not begin
from birth, they usually appear at the age of 30 – 50 years of age. The disease causes death 10 –
20 years after a person starts to show symptoms. There is no treatment to treat Huntigton’s given
that it is at the genetic level and very little is understood about gene therapy, but there are
medications that can be used to offset some of the symptoms that patients have.
