Huntington’s disease was first described in medical literature in 1872 by Dr. George Huntington. He was a physician from Long Island, New York. This disease mainly affects nerve cells in the brain called medium spiny neurons (MSNs). The MSNs are crucial in the brain as they receive and coordinate information from other neurons in the brain to control movement of the body, face and eyes. Huntington’s disease is hereditary neurodegenerative disease that affects about 1 out of every 10,000 people in the USA, Europe and Australia. This disease causes involuntary movements of the face and body and dementia. The symptoms of this disease may begin mildly but they worsen with time eventually it will make the affected individual totally dependent on other people for help. Till now there are no known effective treatments for this disease.
This disease leads to damage and destruction of the crucial MSNs. however it doesn’t affect the MSNs only, other types of neurons in the brain that apparently are also affected by this disease are the cortical neurons. This disease is common in adults and patients will mostly notice the first symptom of the disease when they are aged 35-50 years old. In the beginning the disease might show symptoms as weak spasmodic movements of the muscles in the face and limbs. However as the disease worsens these spasmodic movements become more evident and frequent and other symptoms appear. Patients are affected in different ways, but symptoms may include difficulty speaking and swallowing, dementia or trouble concentrating.
As mentioned earlier Huntington’s disease is hereditary and children with an affected parent have a 50% chance of inheriting the genetic fault that causes the disease. This fault occurs in the gene that holds the code for a protein called Huntingtin. The defective gene causes the body to make a faulty, toxic version of the Huntingtin protein and this eventually results in the loss of MSNs and other neurons which worsens the health of the patient.
Presently, there are no accepted standard treatment of Huntington’s disease, a disease characterized by wasting away of certain nerve cells in the brain and improper muscle coordination. Despite this fact, there are therapies that have been thought of as potent enough to help in the treatment of this disease. One of the therapies mentioned is the stem cell therapy.
Currently, there is a study that has reported that stem cell therapy can be used in treating Huntington’s disease. The study published on March 15 in the journal Cell Stem Cell reports that there is a special type of brain cell created from stem cells that could help restore the muscle coordination deficits that are responsible for uncontrollable spasms, a common symptom of the disease. The researchers demonstrated that movement in mice with a Huntington’s-like condition could be restored.
The study was led by Su-Chun Zhang who is a neuroscientist at the University of Wisconsin-Madison. Mr. Zhang is also an expert in creating various types of brain cells from human embryonic or induce pluripotent stem cells. In this research he and his team focused on GABA neurons. They worked on the GABA because of the theory that the degradation of GABA cells results in the breakdown of a vital neural circuit and loss of motor function in individuals suffering from Huntington’s disease.
According to Zhang, GABA neurons generate a vital neurotransmitter, a chemical that helps support the communication network in the brain that coordinates movement. In this study Zhang and his colleagues looked for various ways of generating large quantities of GABA neurons from human embryonic stem cells. Owing to the ability of stem cells to change shape and multiply the team hoped that the stem cells will be able to be safely integrated into the brain of a mouse model of Huntington’s disease. As they had expected the stem cells were safely integrated into the brain. The stem cells were also able to restore the damaged communication network and restore motor function.
The results of this study presents hope not only to patients but to the entire medical fraternity, he explained why they had targeted the GABA circuitry; “This circuitry is essential for motor coordination and it is what is broken in Huntington patients. The GABA neurons exert their influence at a distance through this circuit. Their cell targets are far away. Many in the field feel that successful cell transplants would be impossible because it would require rebuilding the circuitry. But what we’ve shown is that the GABA neurons can remake the circuitry and produce the right neurotransmitter.”
The finding of this research presents hope as they show that in the future, the stem cell therapy can be used in the treatment of the Huntington’s disease. This experiment also shows that the human brain can also be a good target for treatment of neurodegenerative diseases.
The leader of the team that conducted this research, Mr. Zhang however notes that though this research shows some success it might take some time before the stem cell therapy can be used in treating humans suffering from Huntington’s disease.
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