Describe one of genetic diseases of inheritance, including symptoms and disease biology.

Huntington’s disease (HD) is a genetic disorder that affects certain regions of the brain. It is an inherited affliction caused by a single mutation in a gene on chromosome 4, which encodes for a protein called huntingtin. This mutation causes the production of an abnormal form of huntingtin that does not function normally, resulting in progressive damage to neurons and other cells in certain areas of the brain over time. HD usually manifests itself late into adulthood, between 30-50 years old but can also appear earlier or later depending on the specific case. Symptoms may include involuntary movements such as jerking and twitching (known as “chorea”), emotional disturbances such as depression or irritability, cognitive decline including difficulty concentrating, memory loss, impaired executive functioning and speech problems such as slurred words or slow speech.

The mutated Huntingtin gene has been shown to cause degeneration of nerve cells responsible for controlling movement and cognition because it disrupts normal cell processes within neural networks; this results in uncontrollable muscle contractions, cognitive dysfunction, psychiatric symptoms and loss of physical coordination. Additionally, there are some evidence that suggests that mutations in Huntingtin may alter metabolism pathways leading to further cellular damage and additional neurological consequences .

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