Huntington's disease (HTT gene)

Huntington's Disease (HTT Gene)

We remind you that independent interpretation of the results is unacceptable, the information provided below is for reference purposes only.

Huntington's disease is a progressive neurodegenerative disorder caused by a mutation in the huntingtin (HTT) gene. This gene provides instructions for producing a protein called huntingtin, which plays a crucial role in various cellular processes, including brain development and function.

Structure and Function of Huntingtin

The huntingtin protein is involved in various cellular processes, including transcriptional regulation, intracellular transport, and cellular signaling. It is expressed in many tissues throughout the body, but its exact functions are not fully understood.

The HTT gene contains a specific sequence of DNA called a CAG trinucleotide repeat. In individuals without Huntington's disease, this repeat region typically has between 10 and 26 CAG repeats. However, in individuals with Huntington's disease, the CAG repeat region is expanded, containing 36 or more repeats.

The expanded CAG repeat in the HTT gene results in the production of a mutant huntingtin protein with an abnormally long stretch of glutamine residues. This mutant protein tends to misfold and accumulate in neurons, forming insoluble aggregates that are toxic to brain cells.

Role of the Huntington's Disease (HTT) Gene

The Huntington's Disease (HTT) gene plays a crucial role in the development and functioning of the brain. It is responsible for producing a protein called huntingtin, which is essential for normal brain cell function. Mutations in the HTT gene can lead to the production of an abnormal huntingtin protein, resulting in the progressive degeneration of brain cells, particularly in the basal ganglia and cerebral cortex.

Indications for Huntington's Disease (HTT) Gene Testing

Huntington's Disease (HTT) gene testing is recommended in the following cases:

• Individuals with symptoms suggestive of Huntington's disease, such as uncontrolled movements, cognitive impairment, and emotional disturbances.
• Individuals with a family history of Huntington's disease, particularly if a parent or close relative has been diagnosed with the condition.
• Prenatal testing for Huntington's disease may be considered if one or both parents are known carriers of the HTT gene mutation.
• Confirmatory testing after a positive or inconclusive initial screening test.

Preparation for the Procedure

Prior to undergoing the Huntington's Disease (Htt Gene) test, there are a few important considerations:

• Inform your healthcare provider about any medications, supplements, or treatments you are currently taking, as some may potentially interfere with the test results.
• Disclose any recent illnesses or medical conditions, as these can sometimes affect the accuracy of the test.
• Maintain proper hydration by drinking enough fluids before the test, as dehydration can potentially impact the testing process.
• No specific dietary restrictions are typically required for this test.

The Procedure

The Huntington's Disease (Htt Gene) test is typically conducted by drawing a small sample of blood from a vein in your arm. The process is generally quick and straightforward, performed by a trained healthcare professional. Some minor discomfort or bruising may occur at the puncture site, but it typically resolves within a few days.

Sources:

https://www.thermofisher.com/us/en/home/life-science/pcr/real-time-pcr/real-time-pcr-learning-center/genotyping-analysis-real-time-pcr-information/what-is-genotyping.html
http://en.wikipedia.org/wiki/Genotyping
https://pubmed.ncbi.nlm.nih.gov/37026777/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299185/
https://www.idtdna.com/pages/applications/genotyping
https://www.integra-biosciences.com/global/en/blog/article/genotyping
https://currentprotocols.onlinelibrary.wiley.com/doi/full/10.1002/cpz1.727

IMPORTANT!

It is crucial to remember that the information provided in this section is not intended for self-diagnosis or self-treatment. If you experience any symptoms or a flare-up of a condition, it is essential to consult a qualified healthcare professional for proper diagnosis and treatment. Only a qualified specialist can provide an accurate diagnosis and determine the appropriate course of treatment. To ensure the most accurate and consistent evaluation of test results, it is recommended to have them performed at the same laboratory. This is because different laboratories may use varying methods and units of measurement for similar tests.