Tay-Sachs Disease

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by dporter4147
Last updated 6 years ago

Discipline:
Science
Subject:
Human Anatomy

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Tay-Sachs Disease

- Classic infantile Tay–Sachs disease results when a child has inherited mutations from both parents that completely stop the biodegradation of gangliosides- Heterozygous carriers (individuals who inherit one mutant allele) show abnormal enzyme activity, but manifest no disease symptoms. - Carriers have a 50 percent chance of passing on the defective gene to their children. A child who inherits one inactive gene is a Tay-Sachs carrier like the parent. - If both parents are carriers and their child inherits the defective Hex-A gene from each of them, the child will have Tay-Sachs disease. - When both parents are carriers of the defective Tay-Sachs gene, each child has a 25 percent chance of having Tay-Sachs disease and a 50 percent chance of being a carrier.

- Tay–Sachs results from mutations in the HEXA gene on human chromosome 15- most common in Jewish population , 1 in 27 are thought to be carriers- The HEXA gene located on long (q) arm of human chromosome 15, between positions 23 and 24- people with tay-sachs have red spots in their eyes- is a recessive geneInfantile Tay–Sachs disease - infants are normal for about 6 months after birth, then neurons become distended with gangliosides, and a relentless deterioration of mental and physical abilities begins- blind, deaf, unable to swallow, atrophied (weakening of the body), and paralytic (loss of muscle function). Death usually occurs before the age of fourJuvenile Tay–Sachs disease - rarer than other forms, initially seen in children between two and ten years old- develop cognitive and motor skill deterioration, dysarthria, dysphagia, ataxia, and spasticity. Death usually occurs between the age of five to fifteen yearsAdult/Late-Onset Tay–Sachs disease - first symptoms during the 30s or 40s- typically begin to be seen in adolescence or early adulthood – include speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, People with late-onset Tay–Sachs may become full-time wheelchair users in later life

Tay-Sachs

mutation specifics

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how does the mutation manifest into the disease?

- currently no cure or treatment for Tay–Sachs disease. - Even with the best care, children with infantile Tay–Sachs disease die by the age of 4. - Although experimental work is underway, no current medical treatment of the root cause yet exists.- Patients receive supportive care to ease the symptoms or extend life. - Infants are given feeding tubes when they can no longer swallow.- Improvements in life-extending care have somewhat lengthened the survival of children with Tay–Sachs disease, but no current therapy is able to reverse or delay the disease's progress.- In late-onset Tay-Sachs, medication (ex. lithium for depression) can sometimes control psychiatric symptoms and seizures, although some medications (ex. tricyclic antidepressants) are associated with significant adverse effects. - 2007 research aav injection reaserch, using mice (video on youtube)- In 2011, researchers discovered that Pyrimethamine can increase - hexosaminidase activity, slowing down the progression of Late-Onset Tay–Sachs disease.- june 7 2013, reaserchers may have come up with a drug for taysachs. (article)

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