University Biology: Huntington's Disease Genetic Testing

This biology assignment examines Huntington's disease, an autosomal dominant disorder characterized by symptoms like involuntary movements, muscle rigidity, and speech problems. The assignment explores the inheritance patterns of the disease, emphasizing the 50% chance of offspring inheriting the gene if one parent has the disease. It highlights the importance of genetic testing, including techniques like Polymerase Chain reaction and Southern blotting, for early diagnosis and intervention. The author, considering their father's diagnosis, expresses the need for genetic testing to assess their own risk and enable timely management of the disease's effects. The assignment stresses the significance of early detection and intervention for managing the progression of Huntington's disease.

RUNNING HEAD: BIOLOGY
BIOLOGY
Name of Student
Name of University
Author note

1
BIOLOGY
Huntington’s disease is an autosomal dominant disorder and it has several
clinical symptoms such as jerking (involuntary) movements, muscle rigidity or
contracture, balance, posture, impaired gait, muscle problems, abnormal eye
movements. There are problems with motor speech and swallowing issues exists as
well. Overall, the symptoms can be divided into are muscle movement problems, eye
movement problems, muscle tone problems and speech problems which causes
immense problems in the activities of daily life as well as in the execution of motor
actions for daily day to day actions. As it is an autosomal dominant disorder, there are
very high chances that the genes can be inherited to the progeny, as there is no carrier
stage involved in the process (Craufurd, Thompson & Snowden, 2018). As
Huntington’s disease is an autosomal disease and just one of the partner has
Huntington’s disease and the other partner is normal, there are fifty per cent chances
that the progenies that their children might have or be affected with Huntington’s
disease (Benraiss et al. 2016). And if both the parents are having the genes for
Huntington’s, which means both of them are dominant, then all their children,
irrespective of genders will be Huntington’s dominant, which means they will have
the Huntington’s disease. It is to be noted that Huntington’s disease is not an
allosomal or an X-linked disease and the occurrence of the disease does not depend on
the genders of the children (Cubo et al., 2016). With someone with Huntington’s
disease, the family has to go through a lot of medical and nursing attention for that
individual and it is very important that the diagnosis of the disease is done from an
early stage so that the interventions can begin as soon as possible so that the cases are
managed in a pertinent manner. Family education and mental health counselling is
also required. Hence, genetic testing becomes a very important tool in order to
diagnose and assess the first stages and the second stages of Huntington’s disease.

2
BIOLOGY
The genetic testing is very important for diagnosis of Polymerase Chain
reaction, electrophoresis, Southern blotting which are very critical and important for
the diagnosis of Huntington’s disease (Johnson et al., 2018). If my father has
Huntington's disease and if I had the opportunity to be tested for mutation, I would be
undertake the genetic testing for Huntington’s disease.
It is important to be safe and if my father is autosomal dominant, then fifty per
cent are the chances their children, irrespective of genders will be Huntington’s
dominant, which means they have at least 50 per cent chance of having Huntington’s
disease. Hence it is very important that I, as a son of a Huntington’s disease parent,
get myself genetically tested as because my mother, do not have Huntington’s disease
but there remains at least fifty per cent of chance to have the disease. Early genetic
detection would help in early intervention planning and initiation of the clinical
interventions to manage the speech, motor and other muscle problems as soon as
possible, is extremely important. That is why, the genetic testing becomes very
important. \

3
BIOLOGY
References
chromewBenraiss, A., Wang, S., Herrlinger, S., Li, X., Chandler-Militello, D., Mauceri, J.,
Burm, H.B., Toner, M., Osipovitch, M., Xu, Q.J. & Ding, F., (2016). Human glia can both
induce and rescue aspects of disease phenotype in Huntington disease. Nature
communications, 7, p.11758.
Craufurd, D., Thompson, J.C. & Snowden, J.S., (2018). Behavioral Changes in Huntington
Disease. Cognitive and behavioral neurology: official journal of the Society for Behavioral
and Cognitive Neurology, 31(1), p.26.
Cubo, E., Ramos-Arroyo, M.A., Martinez-Horta, S., Martínez-Descalls, A., Calvo, S. & Gil-
Polo, C., (2016). Clinical manifestations of intermediate allele carriers in Huntington
disease. Neurology, 87(6), pp.571-578.
Johnson, E.B., Byrne, L.M., Gregory, S., Rodrigues, F.B., Blennow, K., Durr, A., Leavitt,
B.R., Roos, R.A., Zetterberg, H., Tabrizi, S.J. & Scahill, R.I., (2018). Neurofilament light
protein in blood predicts regional atrophy in Huntington disease. Neurology, 90(8), pp.e717-
e723.

4
BIOLOGY