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Disease that stunts infants' growth traced to same gene that makeskids grow too fast by ferujkll sdff
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Disease that stunts infants' growth traced to same gene that makeskids grow too fast by FERUJKLL SDFF
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| Article Posted: 12/09/2012 |
| Article Views: 76 |
| Articles Written: 2023 - MORE ARTICLES FROM THIS AUTHOR |
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Disease that stunts infants' growth traced to same gene that makeskids grow too fast |
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Published in the May 27 edition of Nature Genetics , the UCLA findings could lead to new ways of blocking the rapidcell division that allows tumors to grow unchecked. The discoveryalso offers a new tool for diagnosing children with IMAGe syndrome,which until now has been difficult to accurately identify. The discovery holds special significance for principal investigatorDr. Eric Vilain, a professor of human genetics, pediatrics andurology at the David Geffen School of Medicine at UCLA. Nearly 20 years ago, as a medical resident in his native France,Vilain cared for two boys, ages 3 and 6, who were dramaticallyshort for their ages.
Though unrelated, both children shared amysterious malady marked by minimal fetal development, stunted bonegrowth, sluggish adrenal glands, and undersized organs andgenitals. "I never found a reason to explain these patients' unusual setof symptoms," explained Vilain, who is also director of theUCLA Institute for Society and Genetics. "I've been searchingfor the cause of their disease since 1993." When Vilain joined UCLA as a genetics fellow, the two casescontinued to intrigue him. His mentor, then UCLA geneticist Dr.Edward McCabe, recalled a similar case from his previous post atBaylor College of Medicine. The two of them obtained blood samplesfrom the three cases and analyzed the patients' DNA for mutationsin suspect genes, but uncovered nothing.
Vilain and McCabe approached the Journal of Clinical Endocrinology and Metabolism , and in 1999 published the first description of the syndrome,which they dubbed IMAGe, an acronym of sorts for the condition'ssymptoms: intrauterine growth restriction, metaphyseal dysplasia,adrenal hypoplasia and genital anomalies. Over the next decade, about 20 cases were reported around theworld. But the cause of IMAGe syndrome remained a mystery. Help arrived unexpectedly last year when Vilain received an emailfrom Argentinian physician Dr. Ignacio Bergada, who had unearthedthe 1999 journal article.
He told Vilain about a large family hewas treating in which eight members suffered the same symptomsdescribed in the study. All of the family members agreed to sendtheir DNA samples to UCLA for study. Vilain realized that he had stumbled across the scientificequivalent of winning the lottery. He assembled a team of UCLAresearchers to partner with Bergada and London endocrinologist Dr.John Achermann.
"At last we had enough samples to help us zero in on the generesponsible for the syndrome," Vilain said. "Sequencingtechnology had also advanced in sophistication over the past twodecades, allowing us to quickly analyze the entire family's DNAsamples." Vilain's team performed a linkage study, which identifiesdisease-related genetic markers passed down from one generation toanother. The results steered Vilain to a huge swath of Chromosome11. The UCLA Center for Clinical Genomics performed next-generationsequencing, a powerful new technique that enabled the scientists toscour the enormous area in just two weeks and tease out a slenderstretch that held the culprit mutation.
The team also uncovered thesame mutation in the original three cases described by Vilain in1999. A word of explanation: Located on 23 pairs of chromosomes, humangenes hold the codes for making cellular proteins, the buildingblocks for our bodies. Most of the human diseases resulting frommutations in a single gene can be blamed on changes in aprotein-coding sequence. By scanning the entire exome, orprotein-coding factory of the genome, clinical geneticists caninterpret every gene variant to track down the mutations thatproduce a patient's disease and rapidly reach a clear-cutdiagnosis.
"We discovered a mutation in a tiny sliver of the chromosomethat appeared in every family member affected by IMAGesyndrome," said Vilain. "This was a big step forward. Nowwe can use gene sequencing as a tool to screen for the disease anddiagnose children early enough for them to benefit from medicalintervention. "We were a little surprised, because the mutation was locatedon a famous gene recognized for causing Beckwith-Wiedemannsyndrome," he added.
"The two diseases are polaropposites of each other." Children born with Beckwith-Wiedemann syndrome -- named for the twodoctors who discovered it -- grow very large with big adrenalglands, elongated bones and oversized internal organs. Becausetheir cells grow so fast, children with the disorder typically dieof cancer at a young age. The disease affects one in 15,000 births. "Finding opposite functions in the same gene is a rarebiological phenomenon" emphasized Vilain.
"When themutation appeared in the slim section we identified, the infantdeveloped IMAGe syndrome. If the mutation fell anywhere else in thegene, the child was born with Beckwith-Wiedemann. That's reallyquite remarkable." IMAGe syndrome patients also tend to die young due to poor adrenalactivity, which physicians treat with hormone-replacement therapy. The findings proved that Vilain and his colleagues had identifiedthe correct mutation, bringing his 20-year odyssey to a successfulend.
"Our findings leave no doubt that this set of symptoms is atrue syndrome and not just a figment of my imagination," saidVilain. "What makes this special for me is finally being able tounravel what caused the life-threatening disease in the twopatients I saw nearly 20 years ago," he added. "As aclinical scientist, the reward for successful research isuncovering new clues that allow us to help patients feel better byimproving their medical care." The IMAGe mutation's ability to miniaturize organisms and haltgrowth could offer intriguing clinical benefits, he noted. "Our next effort will focus on manipulating the mutation'sstrong influence on growth to shrink tumors in the adrenal glandsand other internal organs," explained Vilain.
Vilain's coauthors included first author Valerie Arboleda, HaneLee, Alice Fleming, Abhik Banerjee, Emmanuele Delot, ImilceRodriguez-Fernandez, Esteban Dell'Angelica, Stanley Nelson andJulian Martinez-Agosto, all of UCLA; Bruno Ferraz-de-Souza ofUniversity of San Paulo in Brazil; Bergada of Hospital de NinosRicardo Gutierrez, Argentina; and Achermann of University CollegeLondon Institute of Child Health. The study was funded by the Doris Duke Charitable Foundation,Wellcome Trust and National Institute of Child Health and HumanDevelopment (grants RO1HD068 and 1F31HD068136). I am a professional writer from Bag Making Machinery, which contains a great deal of information about the northface jacket , ladies clothing catalogs, welcome to visit!
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