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How Does Huntington's Disease Affect The Body

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How Does Huntington's Disease Affect The Body – Huntington’s disease is a genetic disorder that affects the brain and over time affects a person’s ability to control the movements of the arms, legs, face and torso (called chorea). It can lead to changes in personality and mental health and eventually lead to dementia. It occurs mostly in adulthood. As the disease progresses, symptoms continue to worsen and patients lose the ability to walk and talk, eventually developing muscle stiffness (stiffness) and severe dementia. Huntington’s disease has an unusual inheritance pattern among genetic diseases, which we will explain more about later.

The gene that causes Huntington’s disease (HD) is called HTT. It produces a protein called huntingtin. Although the exact function of this protein is unknown, it is believed to play an important role in nerve cells in the brain. These cells send electrical impulses through the brain and other parts of the body, allowing you to make movements like raising your arms or wiggling your toes. People with HD produce abnormal HTT protein due to a mutation in the HTT gene, which causes nerve cells to malfunction and stop working. This causes parts of the brain to begin to shrink (atrophy), which leads to disease.

How Does Huntington's Disease Affect The Body

Everyone has two HTTs, one from the mother and one from the father. At the very beginning of the HTT gene, there is a repetitive part of the genetic code. Specifically, three genetic building blocks (called base pairs), cytosine-adenine-guanine, are repeated over and over in the following order: CAG, CAG, CAG, etc. Therefore, HD is known as trinucleotide repeat disorder.

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People who are not at risk for HD have 26 or fewer CAG repeats in the HTT gene. People with CAG repeats between 27 and 35 are not at risk for HD, but their offspring may be at risk for HD. (This range of repeats is called an “intermediate allele,” and the term “allele” is another word to describe a gene.) People with 36 to 39 CAG repeats may have HD (which is considered “reduced penetrance”). or not.” allele). If people in this group do develop Huntington’s disease, it is usually at an older age. Finally, people with 40 or more CAG repeats will definitely develop HD, and the more CAG repeats However, the disease appears earlier. For example, HD can start in adolescence, when the CAG repeat size increases to 60.

HD is an autosomal dominant disease; This means that anyone with a CAG repeat size of 40 or more has a 50 percent chance of passing on the risk of HD to their children. However, HD is unique among somatic dominant disorders in that CAG repeats become larger in size when passed from parent to child—but only when passed from father to child. For example, if a man has a CAG repeat size in the intermediate range (eg, 35), his child may have a CAG repeat size of 40 and develop HD, even if the man does not develop the disease. Therefore, in families where the CAG repeat expansion is transmitted through males, the age of onset may be increasingly earlier because the CAG repeat can expand. This pattern—with starting age getting younger and younger with each generation—is called expectancy.

Genetic testing for the HTT gene can determine the size of an individual’s CAG repeat and assess the chance of HD. Deciding whether to undergo genetic testing for this disease is never an easy decision. HD cannot be cured or prevented; Treatment usually involves controlling the development and progression of symptoms. While Huntington’s disease can be a devastating diagnosis for individuals and families, several new drugs are entering clinical trials for the first time in a while that may offer hope for treating Huntington’s disease.

Some people take the HD test because they want to use the information for family planning purposes. There are now genetic techniques that allow a couple at risk of developing Huntington’s disease to have children without the disease. For example, in pre-implantation genetic testing, a couple undergoes in vitro fertilization; When the embryo reaches a certain stage of development, a single cell can be harvested and tested for HD. Embryos without CAG re-expansion can then be implanted, virtually guaranteeing that the child will be born without the risk of HD.

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In other cases, individuals may be tested for financial and medical planning purposes. Some may want to make sure they have all the necessary insurance, medical power of attorney, and other estate planning in place so the family can ease the financial burden and know how to manage the person if HD is diagnosed. of worry

Because testing positive for Huntington’s disease can have significant psychological consequences, it is important that people meet with a geneticist, a psychologist, and other health care professionals before undergoing genetic testing that predicts Huntington’s disease. .

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Huntington’s disease (HD) is a progressive and fatal neurodegenerative disease that is inherited in an autosomal dominant manner. This disorder is characterized by motor dysfunction (chorea in the early stages and bradykinesia, dystonia and lack of coordination of movements in the later stages), psychiatric disorders and cognitive decline. The neuropathological hallmark of HD is marked neuron loss in the striatum (caudate and putamen). The striatum is associated with motor control, flexibility, motivation, and learning, and purinergic signaling plays an important role in controlling these events. Purinergic signaling involves the action of purine nucleotides and nucleosides through the activation of P2 and P1 receptors. Extracellular nucleotides and nucleoside metabolizing enzymes control the levels of these messengers and regulate purinergic signaling. High expression of adenosine A in the striatum

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Receptors involved in the neurodegeneration observed in HD. P2X7 and P2Y2 receptors may also play a role in the pathophysiology of HD. Interestingly, nucleotide and nucleoside levels may be altered in animal models of HD and human HD. This review presents several studies that describe the relationship between purinergic signaling and HD and the use of purinergic receptors as drug targets and biomarkers for this neurodegenerative disease.

Huntington’s disease (HD) is a progressive and fatal neurodegenerative disease that is inherited in an autosomal dominant manner (Smith-Dijak et al., 2019; Blumenstock and Dudanova, 2020). It is caused by an expansion of the cytosine-adenine-guanine (CAG) triplet repeat sequence in exon 1 of the huntingtin (HTT) gene located on chromosome 4 (Huntington Cooperative Research Group, 1993; Capiluppi et al., 2020). This change leads to the expansion of the polyglutamine (polyQ) region in the encoded HTT protein (Bailus et al., 2017; Rai et al., 2019). Therefore, the expressed HTT protein is a mutant (mHTT; Cybulska et al., 2020). Individuals with up to 35 CAG repeats are generally considered healthy, while individuals with 36 to 39 CAG repeats may or may not develop signs and symptoms of HD (Shoulson and Young, 2011; Capiluppi et al. ., 2020). More than 50 CAG repeats always lead to disease (Capiluppi et al., 2020). There is an inverse correlation between the number of CAG repeats, age of onset, and severity of HD symptoms (Bates et al., 2015; Petersen and Weidt, 2019).

The average prevalence of Huntington’s disease is estimated to be 5 per 100,000 (Baig et al., 2016; Illarioshkin et al., 2018). HD is characterized by a progressive neurobehavioral triad, including motor dysfunction, psychiatric disorders, and cognitive decline (Stahl & Feigin, 2020). Motor dysfunction is divided into two stages: in the initial stage, abnormal involuntary movement occurs, which is called chorea; In the final stage, voluntary movement appears to be impaired, resulting in bradykinesia, imbalance of muscle tone, and incoordination of movement. Neurological and psychological symptoms observed include depression, apathy, irritability, anxiety and psychosis. Cognitive impairment often precedes movement abnormalities. Cognitive changes include disturbances in attention and spatial performance and slowing of planning processing. Cognitive decline progresses to dementia (Stahl and Feigin, 2020) and death is imminent 15–20 years after disease onset (Blumenstock and Dudanova, 2020). These disorders can be attributed to several brain regions that show neurodegeneration, including the cerebral cortex, thalamus, subthalamic nucleus, globus pallidus, substantia nigra, and hypothalamus. However, a hallmark of the disease is the loss of distinct neurons in the striatum (Dame and Putaman; Rubinstein, 2002; Ramaswamy et al., 2007; Koppen and Roos, 2017).

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