[bksvol-discuss] Re: OT: UCLA identifies enzyme linked to childhood blindness
- From: Cindy <popularplace@xxxxxxxxx>
- To: bksvol-discuss@xxxxxxxxxxxxx
- Date: Fri, 12 Aug 2005 17:57:32 -0700 (PDT)
Hi, Paula,
I admit I didn't understand a lot of it, either. I'm
not very scientifically minded. Hopefully if someone
or someone's child has the condition they'll
understand it better. (smile)
Cindy
--- Paula and James Muysenberg
<outofsightlife@xxxxxxxxxxx> wrote:
> Hi, Cindy,
>
> I couldn't follow all this, but it is
> fascinating. I recently read and
> validated a book Sarah submitted, called Darwin's
> Black Box, by Michael
> Behe. Reading all that technical description about
> enzymes and the visual
> process seemed like another page out of Behe's book.
> It's funny how, since I
> read the book, similar material seems to keep
> popping up.
>
> Thanks for forwarding this article.
>
> Paula Muysenberg
>
> ----- Original Message -----
> From: "Cindy" <popularplace@xxxxxxxxx>
> To: <bksvol-discuss@xxxxxxxxxxxxx>
> Sent: Friday, August 12, 2005 1:27 AM
> Subject: [bksvol-discuss] OT: UCLA identifies enzyme
> linked to childhood
> blindness
>
>
> > I heard an quick item on the car radio, and when I
> > came home I looked it up. This may be of some
> interest
> > to some of you.
> >
> > Cindy
> >
> > UCLA researchers identify key enzyme linked to
> > childhood blindness
> >
> > Findings could lead to gene therapy cure
> > In findings that could lead to curing some forms
> of
> > congenital blindness through gene therapy,
> researchers
> > at UCLA have discovered that RPE65, a gene missing
> in
> > infants born with the blinding disease Leber
> > congenital amaurosis, is also a key enzyme in the
> > visual cycle. The identity of this enzyme has long
> > been a mystery to scientists.
> >
> > The study, "Rpe65 is the Retinoid Isomerase in
> Bovine
> > Retinal Pigment Epithelium," is published in the
> Aug.
> > 12 issue of Cell magazine.
> >
> > "We were amazed when we discovered the function
> for
> > Rpe65 -- and that Rpe65 is the retinoid isomerase.
> It
> > is a protein that all of us had known about for
> > years," said Dr. Gabriel Travis, professor of
> > ophthalmology and biological chemistry at UCLA's
> Jules
> > Stein Eye Institute and one of the researchers.
> "It's
> > like searching the world for a treasure, then
> > discovering it in your own back yard."
> >
> > Leber congenital amaurosis is an inherited disease
> > that is believed to cause up to 20 percent of all
> > cases of childhood blindness. It is caused by
> > mutations in several different genes including
> RPE65.
> > An important characteristic of this disease is
> that
> > the light sensitive rod and cone cells remain
> intact
> > in the retinas of Leber patients for a long time.
> >
> > "This suggests that replacement of RPE65 by gene
> > therapy should correct the blindness in these
> > children, as was observed in mice and dogs with
> RPE65
> > mutations," Travis said. "This is a major
> breakthrough
> > in understanding the visual cycle. It has
> > ramifications for several inherited blinding
> diseases
> > caused by mutations in visual cycle genes."
> >
> > The newly identified isomerase enzyme plays a
> crucial
> > role in the regeneration of rhodopsin visual
> pigment
> > in the retina after light exposure. Rhodopsin
> contains
> > a light absorbing molecule called 11 cis
> > retinaldehyde, related to vitamin A, which is
> > converted upon light absorption to all trans
> > retinaldehyde in a process called photo bleaching.
> > This conversion is the first step in visual
> > perception.
> >
> > Photo bleaching leaves the rhodopsin insensitive
> to
> > light until the all trans retinaldehyde is
> converted,
> > or "isomerized," back into 11 cis retinaldehyde,
> which
> > completes the visual cycle. Scientists have for
> two
> > decades been attempting to identify the retinoid
> > isomerase enzyme that catalyzes this regeneration
> of
> > 11 cis retinaldehyde. Scientists have also been
> > stumped by the function of the Rpe65 protein
> >
> > Working with Travis at the Jules Stein Eye
> Institute,
> > Dr. Minghao Jin, visiting assistant researcher in
> > ophthalmology, performed an expression screen in
> > cultured human cells, looking for a gene that
> caused
> > these cells to convert vitamin A into 11 cis
> retinol.
> >
> > The researchers are now studying the effects on
> > retinoid isomerase activity of specific disease
> > causing mutations in the RPE65 gene, which should
> > provide more data on the cause of Leber congenital
> > amaurosis and on how the Rpe65 protein works. The
> > researchers are also examining the function of
> other
> > proteins that work closely with Rpe65. Mutations
> in
> > the genes for these interacting proteins are
> linked to
> > other forms of human blindness.
> >
> > "These results settle the long standing mystery
> about
> > the identity of the retinoid isomerase," Travis
> said.
> > "Scientists have been searching for this enzyme
> for
> > almost 20 years. Our results also explain why
> finding
> > this enzyme has been so difficult, until now."
> >
> > Other researchers on this project besides Travis
> and
> > Jin are Hui Sun, assistant professor of physiology
> at
> > UCLA, and Songhua Li and Walid Moghrabi, staff
> > research associates at the Jules Stein Eye
> Institute.
> >
> > ###
> >
> > The National Eye Institute, the Foundation for
> > Fighting Blindness, and Research to Prevent
> Blindness
> > funded the study.
> >
> >
> >
> >
> > __________________________________
> > Yahoo! Mail
> > Stay connected, organized, and protected. Take the
> tour:
> > http://tour.mail.yahoo.com/mailtour.html
> >
> >
> >
>
>
>
>
__________________________________________________
Do You Yahoo!?
Tired of spam? Yahoo! Mail has the best spam protection around
http://mail.yahoo.com
Other related posts:
