Fragile X syndrome is a sex-linked disease that leads to intellectual impairment in affected individuals. Explain...

Fragile X syndrome is a sex-linked disease that leads to intellectual impairment in affected individuals. Explain the mutation that leads to fragile X syndrome. How does the number of repeats affect gene expression?

Expert Solution

Answe:- Fragile X is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairments. Mutations in the FMR1 gene cause Fragile X syndrome. The FRM1 gene provides information for making a protein called FMRP, this proteins helps to regulates the production of other proteins and plays a role in the development of synapses, which are specialised connection between nerve cells. Synapses are critical for relaying nerve impulses. Fragile X syndrome are caused by the mutation in DNA segment known as CGG triplet repeat.

Normally a dna segment is repeated from 5 to about 40 times. In people with fragile X syndrome however the CGG segment is repeated more than 200 times. The normally expanded CGG segment turns off (silences) the FMR1 gene, which prevents the gene from producing FMRP. Loss or shortage (deficiency) of this protein disrupts nervous system functions and lead to the signs and symptoms of Fragile X syndrome.

gladiator answered 2 years ago

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