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July 12th, 2012 
FAKE NEWS for the Zionist agenda THURSDAY, July 12 (HealthDay News) — A gene mutation linked to
facial and skull abnormalities, as well as impairment of thinking skills,
has been identified by scientists who confirmed their findings in
zebrafish.
Although the discovery may not lead to a cure for people with the
mutated gene, it could someday lead to genetic screening and possibly
early interventions, suggested the researchers from the Medical College of
Georgia at Georgia Health Sciences University in Augusta.
In conducting the study, the scientists examined patients with a rare
disorder known as Potocki-Shaffer syndrome, which can result in a small
head and chin and intellectual disability. The investigators found that
the patients had a mutated PHF21A gene. They were able to isolate the gene
using a distinct chromosomal break found in patients with the
condition.
“We call this breakpoint mapping, and the breakpoint is where the
trouble is,” study co-author Dr. Lawrence Layman, chief of the college’s
section of reproductive endocrinology, infertility and genetics, explained
in a university news release.
The investigators pointed out that damaged genes may not function
normally, and, in this case, PHF21A’s functioning was reduced by about
half. To confirm the role this gene played in the abnormalities seen in
head formation and brain skills, they suppressed the gene in zebrafish.
The study revealed the fish developed similar head and brain defects.
“With less PHF21A, brain cells died, so this gene must play a big role
in neuron survival,” said the study’s lead author, Dr. Hyung-Goo Kim, a
molecular geneticist at the university.
To verify their findings, the researchers unsuppressed the gene in the
zebrafish. Because they have some ability to regenerate, the fish returned
to normal. It is important to note that research involving animals often
doesn’t have implications for humans, and humans can’t be cured in the
same way as zebrafish.
The researchers said, however, that the study provides insight into
face, skull and brain formation. The findings could lead to the
development of genetic screening or intervention in the womb to increase
PHF21A levels.
More research is needed to identify other genes regulated by PHF21A and
screen patients for additional mutations, the study authors added.
“We want to find other people with different genes causing the same
problem,” Layman said. “Now that we know the causative gene, we can
sequence the gene in more patients and see if they have a mutation.”
The study was published this month in the American Journal of Human
Genetics.
More information
The U.S. Office of Rare Diseases Research has more about Potocki-Shaffer syndrome.
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