Beruflich Dokumente
Kultur Dokumente
Yu Lu
Department of Rheumatology
Ren Ji Hospital
Achondroplasia
Achondroplasia vs. Chondroplasia
( )
achondroPlasia
What is achondroplasia?
Can achondroplasia be
diagnosed before birth?
In 1994, researchers identified the gene that causes
achondroplasia. This discovery allowed the
development of highly accurate prenatal tests that
can diagnose or rule out achondroplasia. These tests
can be offered when both expectant parents have
achondroplasia. In such cases, the baby has a onein-four chance of inheriting an abnormal gene from
each parent and developing a fatal form of
achondroplasia. After birth, it generally is diagnosed
by physical examination and X-rays.
How is achondroplasia
treated?
Can achondroplasia be
prevented?
There is no way to prevent the majority of
cases of achondroplasia, since these
births result from totally unexpected gene
mutations in unaffected parents. Genetic
counseling can help affected adults make
informed decisions about family planning.
As noted above, scientists have identified the gene, and the exact mutation
(change) in the gene, that causes achondroplasia. The gene is one of a
family of genes that makes proteins called fibroblast growth factor receptors.
Scientists have recently linked these genes with several skeletal disorders.
The fibroblast growth factor receptor gene dictates the production of a
protein that is located on the surface of cells of different tissue types,
including cartilage. The protein normally responds to signals from chemicals
called growth factors which stimulate cell growth and maturation.
Now scientists are investigating how the faulty protein actually causes the
features of achondroplasia. This eventually may lead to improved treatment
for this disorder, as well as improved understanding and treatment of other
skeletal disorders caused by this family of genes. March of Dimes scientists
and other researchers also are working to identify the genes that cause
some of the other more than 100 forms of disproportionate short structure.
Additional Sources of
Information
Twins
Twin Operation!
WOW! Two Iranian Siamese Twins are to be
seprataed!
They are Iranian, and the word Siamese is not an
ethnical modifier of the Twins, but a description of
the fact that they are connected at the head!
9/11/2001
Jenna and Barbara
were wisked away to a
secret location since
September 11th. The
Secret service quickly
protected them due to
the bombing of the
World Trade Center
and The Pentagon.
TheFirstTwins.com is
saddened by the
destruction on
9/11/2001.
Who is Who?
Jenna is on the
left, Barbara is
on the right.
Barbara is on
the left, Jenna is
on the right.
Holy body
snatchers, those
ain't them!
DNA replication
DNA repair
DNA molecules require continuous
monitoring and repair because of ongoing
assault by mutagens
DNA repair enzymes restore the integrity
of the molecule by processes such as
excision repair, which take advantage of
base paring principles.