Scientists at Weill Cornell Medical College used genetic methods to successfully repair cleft lips in mice embryos specially engineered for the study of cleft lip and cleft palate. Cleft lip and cleft palate are among the most common birth defects, with treatment requiring multiple cycles of surgery, speech therapy and orthodontics. To date, there have been very few pre-clinical methods that allow researchers to study the molecular causes of these malformations. The researchers uncovered the role of genes for Pbx, the Pre-B Cell Leukemia Transcription Factor, proteins in coordinating cellular signaling behaviors crucial for the development of these abnormalities. They also discovered that altering one type of molecule within the Wnt signaling pathway (that comprises a network of proteins best known for their roles in embryogenesis) is sufficient to correct the defects. The researchers also found that only mutations affecting multiple Pbx genes resulted in complete cleft lip, with or without cleft palate, in all of the mouse embryos with these compound mutations. In applications to humans, Wnt signals would be directly delivered to the uterus before the fetus was born to correct cleft lip or cleft palate.
Tuesday, November 29, 2011
Cleft Lip Corrected Genetically in Mouse Model
Scientists at Weill Cornell Medical College used genetic methods to successfully repair cleft lips in mice embryos specially engineered for the study of cleft lip and cleft palate. Cleft lip and cleft palate are among the most common birth defects, with treatment requiring multiple cycles of surgery, speech therapy and orthodontics. To date, there have been very few pre-clinical methods that allow researchers to study the molecular causes of these malformations. The researchers uncovered the role of genes for Pbx, the Pre-B Cell Leukemia Transcription Factor, proteins in coordinating cellular signaling behaviors crucial for the development of these abnormalities. They also discovered that altering one type of molecule within the Wnt signaling pathway (that comprises a network of proteins best known for their roles in embryogenesis) is sufficient to correct the defects. The researchers also found that only mutations affecting multiple Pbx genes resulted in complete cleft lip, with or without cleft palate, in all of the mouse embryos with these compound mutations. In applications to humans, Wnt signals would be directly delivered to the uterus before the fetus was born to correct cleft lip or cleft palate.
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this is excellent, this will help save money on painful operations.
ReplyDeletethis new study is definitely helpful considering the many children we see today with these deformities. my family donates to smile train so children can undergo the correctional surgery so they can live normal lives. This would be great if this would in fact work.
ReplyDeleteHopefully they are able to successfully pull this off with humans. I know a lot of money and time goes out to fixing these cleft lips and it would be so great if we can eventually prevent babies from being born with it from the start.
ReplyDeleteThis is amazing!!! I had to undergo maxillofacial jaw surgery (not cleft palate in particular, a different type) and it was performed by an oral surgeon who travels overseas and corrects less fortunate children's palates. The stories I've heard are so heart warming and really help save lives and it would be even more amazing to see this defect prevented in humans!
ReplyDeleteCleft lip gene help to detect the possibility of this disease. They most commonly occur as isolated birth defects but are also associated with many inherited genetic conditions or syndromes.
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