What does HTT gene mean?

What does HTT gene mean?

Huntingtin (Htt) is the protein coded for by the HTT gene, also known as the IT15 (“interesting transcript 15”) gene. Mutated HTT is the cause of Huntington’s disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.

What is the HTT gene responsible for?

The HTT gene provides instructions for making a protein called huntingtin. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain and is essential for normal development before birth.

Is Huntington dominant or recessive?

Autosomal dominant inheritance pattern Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.

Who Discovered the HTT gene?

Figure 1: George Huntington as a young man. The title page of George Huntington’s 1872 paper in the Medical and Surgical Reporter. HD is a rare, adult-onset, autosomal dominant, progressive neurodegenerative disease.

Can Huntington’s skip a generation?

Fact: The HD gene mutation never skips a generation. However, if someone dies young of another cause, no one might know that the person had the HD gene mutation.

What type of mutation is the HTT mutation?

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat . This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene.

What is the Huntington’s gene?

Huntington’s disease is a progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person’s entire genetic code. This defect is “dominant,” meaning that anyone who inherits it from a parent with Huntington’s will eventually develop the disease.

What type of mutation is htt?

Does Huntington’s get worse with each generation?

Anyone who inherits the gene will eventually develop HD symptoms. The exact age when symptoms appear varies. Often, HD symptoms start earlier in each new generation than in the previous generation.