This is the twice-per-month electronic newsletter for basic, preclinical and translational research news related to the Johns Hopkins School of Medicine. Please forward freely. Direct comments or questions to Joanna Downer, PhD, in the Office of Corporate Communications (4-5105, jdowner1@jhmi.edu).
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IN THIS ISSUE:
+ Genome Comparison Finds Cilia-Related Genes, Clues To Obesity Syndrome
+ Intermediate Sperm Cells Reverse Course, Become Stem Cells
+ Oxygen Therapy May Improve Vision Worsened by Diabetes
NEWS BRIEFS:
Roses To Give Third McKusick Lecture July 8
AWARDS AND HONORS:
Walsh Receives Highest Honor from AUA
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Do you have an interesting research finding about one month from publication or presentation? Send manuscripts to Joanna Downer at jdowner1@jhmi.edu or fax to 410-614-8951. Information about awards and honors received by laboratory personnel and others is welcomed also.
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RESEARCH HIGHLIGHTS:
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5/13/04
Genome Comparison Finds Cilia-Related Genes,
Clues To Obesity Syndrome
By comparing the genomes of an alga, a weed and humans, a team of researchers has identified a new gene behind Bardet-Beidl syndrome (BBS), a complex condition marked by learning disabilities, vision loss and obesity.
The genetic comparisons, done by researchers at Washington University in St. Louis, revealed 688 genes in humans and the alga that are involved in building cells' hair-like projections called cilia, the team reports in the May 14 issue of Cell.
In people, cilia help push fluid and molecules around outside certain cells, including some in the lung, eye, brain and kidney, and Hopkins researchers and their colleagues have reported that faulty cilia appear to be behind some problems seen in BBS.
Two of the identified genes turned out to be located in a region of human chromosome 2 that already had been linked to BBS. Stimulated by the St. Louis researchers, an international research team sequenced the two genes in families with BBS and discovered mutations in one of the two genes.
"There were 230 possible genes in the region of chromosome 2 linked to BBS, and this genomic comparison immediately narrowed down the most likely possibilities to just two," says Nicholas Katsanis, PhD, an assistant professor in the McKusick-Nathans Institute of Genetic Medicine and an assistant professor of ophthalmology. "Using comparative genomics in this way is a big, big deal. It would have been nearly impossible to find this gene in any other way."
http://www.hopkinsmedicine.org/Press_releases/2004/05_13_04.html
Cell 14 May 2004;117(4):541-552
http://www.cell.com/content/article/fulltext?uid=PIIS0092867404004507
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5/18/04
Intermediate Sperm Cells Reverse Course, Become Stem Cells
In experiments with fruit flies, Johns Hopkins scientists have restored the insect's sperm-making stem cells by triggering cells on the way to becoming sperm to reverse course. The unexpected findings appear in the May 13 online express section of Science.
Like all stem cells, the fruit fly's sperm-making stem cells can renew themselves or can develop into more specialized cells -- eventually sperm in this case. While a few types of fairly specialized cells can naturally revert to their stem cell origins at times -- think regrowth of salamanders' lost limbs -- the researchers' experiments document what is thought to be one the first clear examples of an artificially triggered reversal of cell fate in an adult creature.
"With a few exceptions, it is thought that once cells start down the path toward specialization, they can't go back," says Erika Matunis, PhD, assistant professor of cell biology in Hopkins' Institute for Basic Biomedical Sciences. "But we've clearly shown in fruit flies that lost sperm-making stem cells can be replaced, not by replication of remaining stem cells, but by reversal of more specialized cells."
The Hopkins team studied fruit flies whose "don't-specialize" signal for stem cells can be turned on or off by changing the temperature around them. In experiments to examine what happens when the signal is turned off and then turned back on, second-year graduate student Crista Brawley discovered that cells that are two steps -- but not more -- away from their stem cell origins can revert to the more primitive state.
http://www.hopkinsmedicine.org/Press_releases/2004/05_18_04.html
Science (Published in Sciencexpress 13 May 2004.)
http://www.sciencemag.org/cgi/content/abstract/1097676v1
(An individual subscription is needed to access the full text until it appears in print.)
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5/17/04
From the Clinic:
Oxygen Therapy May Improve Vision Worsened by Diabetes
Oxygen delivered through the nose may improve poor vision caused by diabetic macular edema, fluid buildup in the part of the eye responsible for central vision, according to a pilot study by scientists at Johns Hopkins and the National Eye Institute.
In a study of five diabetic patients with persistent macular edema, breathing supplemental oxygen for three months reduced fluid buildup and swelling in the macula and, in some cases, improved visual acuity. Researchers think the therapy could be used in conjunction with laser treatments that also improve oxygenation in the retina to provide long-term stability in these patients.
"The results were really dramatic," says Peter Campochiaro, MD, senior author of the study and a professor of ophthalmology and neuroscience at Hopkins' Wilmer Eye Institute.
For the study, described in the Feb. issue of Investigative Ophthalmology & Visual Science, the researchers studied nine eyes of three men and two women, ages 52 to 69, who had type 2 diabetes for an average of nine years.
http://www.hopkinsmedicine.org/Press_releases/2004/05_17_04.html
Invest Opthalmol Vis Sci 2004 Feb;45(2):617-624
http://www.iovs.org/cgi/content/full/45/2/617
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NEWS BRIEFS:
Roses To Give Third McKusick Lecture July 8 -- Allen D. Roses, MD, will give the third Victor A. McKusick Lecture, "Genetics and Pharmacogenetics in Discovering and Developing Medicines," beginning at 4 pm, Thursday, July 8, in the auditorium of the Wood Basic Science Building. A reception will follow. Roses, Senior Vice President, Genetics Research at GlaxoSmithKline, was charged with organizing genetic strategies for susceptibility gene discovery, pharmacogenetics strategy and implementation, and integration of genetics into medicine discovery and development. For more information email Donna Sims at simsdo@jhmi.edu .
http://www.insidehopkinsmedicine.org/news/news_detail.cfm?id=2002
Walsh Receives Highest Honor from AUA -- On May 12, Patrick Walsh, MD, professor of urology and director of the Brady Urological Institute at Johns Hopkins, accepted the American Urological Association's highest honor, the Ramon Guiteras Award, for his "outstanding contributions to the art and science of urology." Walsh will step down in July as director of the Brady Institute -- a post he has held since 1974 -- but will continue to see patients and perform surgeries full time at Johns Hopkins.
http://www.hopkinsmedicine.org/Press_releases/2004/05_09_04.html
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