Huntington's disease: CAG, CAG, CAG, ...... Repeat, repeat, when the 40th comes, I'll appear.

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Ten minutes ago.

Albinism, Hemophilia, Fabry disease, Generalized myasthenia gravis, Hemophilia, Wilson's disease, Homocysteinemia, Hypophosphatemic rickets, Isovaleric acidemia, Kallmann's syndrome, Langerhans histiocytosis, Lylen's syndrome, Lymphangiomyomatosis, Maple syrupuria, Marfan syndrome, Mitochondrial encephalomyopathy, Neuromyelitis optica, Niemann-Pick disease, Brittle bone disease, Parkinson's disease, Phenylketonuria, Porphyria, Progressive muscular dystrophy, Propionic acidemia, Spinal muscular atrophy, X-linked lymphoproliferative, AIDS, influenza

AIDS: What is CAG?

Huntington's disease responds to AIDS: cytosine-adenine-guanine, abbreviated CAG, a three-nucleotide DNA fragment, simply a piece of gene.

The flu returns to AIDS: Huntington's disease is a genetic disease, and CAG is part of the genes that cause it.

AIDS responds to the flu: Oh, this circle of friends is all genetic diseases except for you and me.

Huntington's disease back to AIDS: Well, we have a big family of genetic diseases.

Albinism: HD, post your autobiography and let these two viruses who have infiltrated our circle of friends with genetic diseases see how good you are.

Huntington's disease: Here's my autobiography.

I'm Huntington's disease, or HD for short.

I am an autosomal dominant disorder characterized by degenerative changes in the nervous system.

Back in 1872, a man named George?? The people in Huntington described me, pointed out that I was hereditary, and named me after him.

I'm genetically ill.

My pathogenic gene is in the 4p16.3 region of human chromosome 4.

My problem is on the HTT gene in this region.

The CAG copy number of HTT gene in normal people is 11~35 times, with an average of 19 times.

CAG repeat copy number less than 26 is a normal allele.

Individuals with CAG repeat copy numbers in the range of 27~35 are not at risk of developing HD, but the risk of disease in offspring is increased due to the instability of the CAG region.

Individuals with CAG repeat copy numbers within 36~39 are at risk and may not develop symptoms.

CAG repeat copy number greater than 39 is a total mutation and will occur.

The higher the number of repeat copies, the earlier the age of onset and the more severe the symptoms.

My symptoms are complex and varied.

Chronic progressive chorea, cognitive dysfunction, mental and behavioral abnormalities...... These are my symptoms.

My average age of onset is 40 years old, but of course there are young people younger than 20 years old and older people over 70 years old.

I mainly run it in my family, or my genes are mutated by external stimuli.

My pathology involves many aspects: neuritis, toxic effects of excitatory amino acids, mitochondrial dysfunction, transcriptional dysregulation......

Although the human body still hasn't fully understood my pathogenesis, they have learned that the over-amplification of CAG in the HTT gene causes the body to mistakenly make a huntingtin protein, and these abnormal proteins clump together and damage some neurons, causing the patient's nervous system to degenerate and develop dementia.

For my treatment, no specific drugs have been found in humans, and symptomatic treatment is the mainstay.

Tetrabenazine is an officially approved drug for the treatment of me, which can improve the patient's involuntary movements, but can aggravate the patient's psychiatric symptoms such as depression.

Therefore, at present, I can only be delayed, not cured, and I hope that mankind will find a cure for me one day sooner.

Albinism: anticipation.

Hemophilia: Mutations in human genes, mostly as a bad result, just like our genetic disease.

AIDS: Human genetic mutations, genetic diseases, so bad!

Influenza: Human genes are still mutating at a rate that is not as fast as our viral genes.