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Causes, risks, and symptoms of Huntington’s disease

Causes, risks, and symptoms of Huntington’s disease

Huntington’s disease is a rare disorder that affects the brain cells, leading to several physical, cognitive, and emotional symptoms. It is a hereditary neurodegenerative disease that attacks the central nervous system. It’s important to note that there is currently no cure for it. However, understanding the early causes of the disease, assessing risks, and identifying signs and symptoms of Huntington’s disease in detail will provide a comprehensive understanding of this condition.

Causes
The following are the genetic causes linked to the development and progression of Huntington’s disease (HD).

Genetic mutation
HD is caused by a mutation in the HTT gene, which is on chromosome 4 in the DNA segment. This mutation causes the production of mutant huntingtin (mHTT), which is an abnormal protein.

Excess protein accumulation
The mutant huntingtin protein has a tendency to aggregate and form clusters within neurons, interfering with their function and causing damage to brain function. This mutant protein is toxic to nerve cells, particularly in certain regions of the brain, leading to their dysfunction and eventual death.

Impaired cellular transport
Nerve and cell damage disrupts the transport of vital molecules within neurons. This affects one’s ability to communicate and function properly to facilitate tasks and familiar actions.

Excitotoxicity
The mutant gene can make neurons more susceptible to excessive stimulation by neurotransmitters, leading to excitotoxicity and neuronal fatality.

Inflammation
One of the persistent symptoms of brain disorders is inflammation of healthy cells that also disrupts communication, contributing to neurodegeneration.

Neurodegeneration
The progressive degeneration of specific brain regions, including the striatum and cortex, are among the leading causes of HD. This neurodegeneration is responsible for the characteristic motor, cognitive, and psychiatric symptoms of HD.

Risk factors of Huntington’s disease
There are many risk factors that also dictate the progression of this disease and impact future outlook.

Genetic mutation
Having a family history of the condition is the most significant risk factor for developing it.

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