Gene chips unmask cryptic diseases

sea-maid submitted, created time 2 months 2 weeks (www.nature.com)

People with diverse symptoms including mental retardation, small head size, heart problems and cataracts have genomic rearrangements on the same region of chromosome 1, researchers reported last week.

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Study Finds "Hobbit" Humans Were Diseased Cretins

"Three-parent" technique: mitochondrial replacement could prevent muscular dystrophy and epilepsy

Darkfrog submitted, created time 9 months 3 weeks (news.nationalgeographic.com)

It sounds more impressive than it is -- they've replaced the mitochondria, not portions of the somatic DNA.

A team at Newcastle University has constructed ten embryos, presumably viable, that hold DNA from one man and two women. Doctors see this technique as a means by which parents carrying genetic diseases may have their own (mostly) genetic offspring without going all the way to sperm donors, egg donors or surrogates

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Study sheds light on how Down's prevents cancer

Sue Wu submitted, created time 10 months 4 weeks (uk.reuters.com)

WASHINGTON (Reuters) - People with Down's syndrome suffer cancer less than most other people and a study in mice published on Wednesday gives one possible explanation -- they produce higher levels of a certain protein.

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A Fix for One Type of Autism

jane2007 submitted, created time 11 months 1 week (www.time.com)

The causes of autism remain largely shrouded in mystery, but there are some types of the disorder that can be traced to specific gene defects.The most common of these — responsible for roughly 5% of autism cases — is a flaw in the X chromosome that causes a condition known as Fragile X Syndrome. Because the defect has been studied on a molecular level, it provides a unique window into understanding autism — and treating it.

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Fragile X fixed in mice

Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors

scott submitted, created time 1 year 2 months (www.pnas.org)

Fragile X syndrome (FXS), a common inherited form of mental retardation, is caused by the functional absence of the fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates the translation of specific mRNAs at synapses. Altered synaptic plasticity has been described in a mouse FXS model.

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Race, Ethnicity, and the Use of Services for Mental Disorders

badboy submitted, created time 1 year 7 months (archpsyc.ama-assn.org)

"Little is known about differences in the unmet need for mental health service use between African Americans and Caribbean blacks. "

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Severe mental retardation gene mutation identified

broadcast submitted, created time 1 year 8 months (www.eurekalert.org)

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.
Researchers describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function

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