研究进展给多囊性肾病患者带来福音
Until recently, a person diagnosed with polycystic kidney disease (PKD) had little hope of a cure.
Today, research discoveries provide important keys to the underlying mechanisms of PKD, which should speed work toward a treatment for the 12.5 million sufferers worldwide. PKD is the world’s most common life-threatening genetic disease. It is more common than cystic fibrosis, sickle cell anemia, hemophilia, muscular dystrophy, and Down’s syndrome combined.
PKD causes balloon-type cysts to form on the kidneys, interfering with function and frequently culminating in end-stage renal disease (ESRD), requiring either dialysis or a kidney transplant to sustain life. The annual cost to the federal government of PKD-associated treatment, including dialysis and kidney transplants in the U.S. is estimated at $1.5 billion.
Three significant articles published in the September 23 issue of NATURE provide new insights on mechanisms responsible for polycystic kidney disease:-- Researchers at the Howard Hughes Medical Institute at the California Institute of Technology in Pasadena, have linked the LOV-1 gene, a gene responsible for aberrant male mating behavior in the tiny roundworm, to the PKD1 gene associated with 85% of PKD cases. Such a discovery will make it possible to investigate similar mechanisms in the easily studied worm.-- Researchers from Harvard Medical School report results of a frog system study demonstrating that a PKD2-like human protein can function as an ion channel associated with the abnormal fluid secretion and cellular proliferation, which are the hallmarks of PKD. Understanding the channel properties should provide new therapeutic strategies for PKD.-- In a commentary accompanying the two PKD articles in NATURE, researchers from the Yale University School of Medicine and Albert Einstein College of Medicine say that the two reports lend strong support to the developing hypothesis that PKD1-related proteins act as receptors, which regulate the activity of ion channels containing the PKD2-related proteins. Further research may show which specific signals activate the mechanism that causes PKD and may lead to understanding the pathology underlying this disease.
The simultaneous publication of two major papers and one commentary on PKD in NATURE highlight both the increasing breadth and dizzying pace of research progress on PKD., http://www.100md.com
Today, research discoveries provide important keys to the underlying mechanisms of PKD, which should speed work toward a treatment for the 12.5 million sufferers worldwide. PKD is the world’s most common life-threatening genetic disease. It is more common than cystic fibrosis, sickle cell anemia, hemophilia, muscular dystrophy, and Down’s syndrome combined.
PKD causes balloon-type cysts to form on the kidneys, interfering with function and frequently culminating in end-stage renal disease (ESRD), requiring either dialysis or a kidney transplant to sustain life. The annual cost to the federal government of PKD-associated treatment, including dialysis and kidney transplants in the U.S. is estimated at $1.5 billion.
Three significant articles published in the September 23 issue of NATURE provide new insights on mechanisms responsible for polycystic kidney disease:-- Researchers at the Howard Hughes Medical Institute at the California Institute of Technology in Pasadena, have linked the LOV-1 gene, a gene responsible for aberrant male mating behavior in the tiny roundworm, to the PKD1 gene associated with 85% of PKD cases. Such a discovery will make it possible to investigate similar mechanisms in the easily studied worm.-- Researchers from Harvard Medical School report results of a frog system study demonstrating that a PKD2-like human protein can function as an ion channel associated with the abnormal fluid secretion and cellular proliferation, which are the hallmarks of PKD. Understanding the channel properties should provide new therapeutic strategies for PKD.-- In a commentary accompanying the two PKD articles in NATURE, researchers from the Yale University School of Medicine and Albert Einstein College of Medicine say that the two reports lend strong support to the developing hypothesis that PKD1-related proteins act as receptors, which regulate the activity of ion channels containing the PKD2-related proteins. Further research may show which specific signals activate the mechanism that causes PKD and may lead to understanding the pathology underlying this disease.
The simultaneous publication of two major papers and one commentary on PKD in NATURE highlight both the increasing breadth and dizzying pace of research progress on PKD., http://www.100md.com