X-linked recessive inheritance
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FRAXA syndrome

Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. more...

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Causes

The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 2000 males and 1 out of about every 4000 females.

Normally, the FMR1 gene contains between 6 and 53 repeats of the CGG codon (trinucleotide repeats). In people with the fragile X syndrome, the FMR1 allele has over 230 repeats of this codon.

Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.

This methylation of the FMR1 locus in chromosome band Xq27.3 is believed to result in constriction and fragility of the X chromosome at that point, a phenomenon that gave the syndrome its name.

The mutation and methylation of the FMR1 gene lead to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins. The various sequelae of fragile X syndrome result.

Transmission of the Fragile X

The diagram (above) of X-linked recessive inheritance is not entirely inappropriate but it markedly oversimplifies the situation and does not provide a sufficient foundation for genetic counseling with the fragile X syndrome.

Because males normally have only one copy of the X chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. They are mentally retarded and may show various physical features of the fragile X syndrome.

Females have two X chromosomes and thus have double the chance of having a working FMR1 allele. Females carrying one X chromosome with an expanded FMR1 gene can have some signs and symptoms of the disorder or be normal.

Males with the fragile X cannot transmit it to any of their sons (since males contribute a Y chromosome, not an X, to their male offspring.)

Females carrying one copy of the fragile X can transmit it to their sons or daughters. Sons who receive the fragile X are at high risk for mental retardation. Daughters who receive the fragile X may appear normal or they may be mentally retarded, usually to a lesser degree than boys with the syndrome.

Symptoms

Aside from mental retardation, prominent characteristics of the syndrome include an elongated face, large or protruding ears, large testicles (macroorchidism), and low muscle tone. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism.

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HEALTH
From Gazette, The (Colorado Springs), 6/13/00

Alternative remedies

They're most popular in the West

A national telephone survey by Puritan.com, an online vitamin store, found that we in the West are more likely to try alternative therapies than are people in other parts of the country. Other survey results:

Women are more likely than men to try an alternative therapy, 68 percent vs. 50 percent.

The most popular alternative therapies are herbal or vitamin therapy (42 percent), followed by massage (29 percent), aromatherapy (17 percent) and yoga and homeopathic therapies (each at 10 percent).

Nine of 10 believe alternative therapies can help a variety of health conditions. Chief among them is stress relief, followed by low energy, joint pain, weight problems, emotional disorders and muscle building.

New weapon in war

Grants may help fight retardation

The war on Fragile X syndrome - one of the most common causes of inherited mental retardation and neuropsychiatric disease - has been given a boost with a new research initiative. The National Institute of Child Health and Human Development and the FRAXA Research Foundation announced recently that they are funding a series of grants to encourage research exploring the epidemiology, genetics and neurobiology of Fragile X syndrome. The National Institute of Mental Health also is lending support.

In Colorado Springs, a support group for parents of Fragile X children meets on the first Friday of each month. Call Cindy at 638- 0729 for more information.

Educational excellence

Local programs recognized

Memorial Hospital's Diabetes Care Program and the Diabetes and Renal Care Clinic of the Penrose-St. Francis Health Learning Center both have received the American Diabetes Association Education Recognition Certificate. Programs that receive the certification are regarded as offering high-quality diabetes self-management education, an essential part of effective diabetes treatment. Nearly 16 million Americans have diabetes.

Got knee pain?

Therapy information available

The Arthritis Foundation is offering a free brochure on hyaluronic acid therapy, a nonsurgical pain-relief therapy for osteoarthritis of the knee. The new therapy involves a series of injections to replace a lubricating fluid in the knee joint, which relieves pain and increases joint mobility. To request the brochure, call (800) 475-6447.

- Bill Radford The Gazette

To submit items for consideration, or to contact us: e-mail feat@gazette.com; phone 636-0272; fax 636-0202; mail Vital Signs, P.O. Box 1779, Colorado Springs 80901.

Copyright 2000
Provided by ProQuest Information and Learning Company. All rights Reserved.

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