‫نورهان احمد حامد الحنفي‬

5804 :‫رقم الجلوس‬

fragile X syndrome
Introduction
A fragile region near the end of the X chromosome is linked to the chromosomal
condition known as fragile-X syndrome. Diminished mental ability, which can vary
from minor learning impairment to severe intellectual disability (or mental
retardation), is the main sign of the illness.

Impacts of Fragile-X Syndrome on Cognitive Function

One of the two sex chromosomes is the X chromosome; the other is the Y
chromosome. Females have two X chromosomes, while males have one X and one
Y chromosome. The fragile-X syndrome, which is believed to be one of the main
causes of intellectual disability in males, will impact the male who obtains the
chromosome. Of the females with one fragile X chromosome, about one-third suffer
modest cognitive impairment; the other two-thirds are mentally normal but have a
50/50 chance of passing on the defective chromosome to each of their offspring.

The Role of FMRP in Brain Development and Synapse Function

A protein called FMRP (fragile-X mental retardation protein) can be lost entirely or
partially, which causes the symptoms of fragile-X syndrome. An essential function
of FMRP in the brain is to promote the growth and maturation of synapses, or
connections, between neurons. Electrical impulses are conducted by synapses, which
also convert electrical signals into metabolic reactions essential to cognition. It is
thought that FMRP carries out these functions by metabolizing ribonucleic acid
(RNA) transcripts generated by neurons. These transcripts are produced in
excessively high amounts when FMRP is absent, which interferes with the
development and operation of synapses.

Genetic Basis of Fragile-X Syndrome: Mutations in FMR1 Gene

The fragile-X mental retardation 1 (FMR1) gene, which is found at the fragile site
of the X chromosome and encodes FMRP, is the source of the genetic abnormality
that underlies the syndrome. The repeating deoxyribonucleic acid (DNA) sequence
found in FMR1 is composed of triplet repeats of the base pairs cytosine (C) and
guanine (G), arranged in the patterns CGG or CCG. This triplet is repeated roughly
thirty times in healthy persons. On the other hand, the pattern is repeated 50–200
times in people with FMR1 mutations; so-called premutations result in fewer repeats
and less severe symptoms than full mutations, which cause many repeats and severe
symptoms. Rarely, additional mutation kinds such deletions or point mutations, may
take place in FMR1. Furthermore, between 2 to 6 percent of children diagnosed with
autism or autistic spectrum disorder also have mutations in FMR1.

Therapeutic Advances in Fragile-X Syndrome:

The fragile-X condition has no known treatment. Affected children can, however,
benefit from early intervention in the form of physical therapy, assistive technologies
(such as specifically made hardware and software), speech and language therapy,
and sensory integration. Pharmacological treatment may be required in certain
instances to manage seizures and symptoms associated with depression, attention-
deficit/hyperactivity disorder, and violence. Gene therapy and protein replacement
therapy are two treatments for fragile-X syndrome that are currently being
developed.

Refrence
1 Updated to include information on genetic mutations underlying fragile X
syndrome and information on intervention therapies and other treatments. Kara
Rogers . Jan 16, 2009

2 Article added to new online database. The Editors of Encyclopaedia Britannica.

Jul 20, 1998

3 https://0c107bw1j-1104-y-https-academic-eb-
com.mplbci.ekb.eg/levels/collegiate/article/fragile-X-syndrome/35089/history