Chromosome Caps Predict Bone Marrow Disease
For the first time, Imperial College London researchers at the Hammersmith Hospital studying a rare bone marrow disease have found an association between telomere shortening - changes in the lengths of DNA repeats at the end of chromosomes - and the time of development and severity of disease symptoms in patients.
Reporting in Nature Genetics today (18 April 2004), the Hammersmith team, collaborating with scientists at the Washington University School of Medicine in the USA, is hoping that the findings could lead to better screening for this and other diseases, as well as suggest targets for new therapies.
Dyskeratosis congenita (DC) is a rare but serious inherited condition where the body is unable to make adequate numbers of blood cells. It can lead to bone marrow failure and a much higher risk of developing cancer. People with DC also have a mutation in an enzyme (telomerase) which repairs telomeres (sections of DNA repeats which cap the ends of chromosomes) and as a result, telomere length in their chromosomes is shorter.
In families with a history of a certain type of the disease, autosomal dominant DC, the disease becomes more severe in succeeding generations.
"We found when we looked at the DNA of families that suffer from the disease, the telomere length gave an indication of how soon and how severely patients were likely to get the disease," said Inderjeet Dokal, Professor of Haematology at Imperial College London and one of the authors of the study. "This disease anticipation was only thought to occur in specific neurological diseases until now."
The researchers propose that the shortening of the DNA repeats in
telomeres may be responsible for disease anticipation. They investigated the telomere lengths and disease status of 27 affected individuals from eight families with the autosomal dominant sub-type of DC and compared this to telomere length measurements in normal families. "The findings of this study provides a novel mechanism for disease anticipation in humans," explains Professor Doka.
Tony Stephenson | alfa
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
Physicists from the University of Würzburg have designed a light source that emits photon pairs. Two-photon sources are particularly well suited for tap-proof data encryption. The experiment's key ingredients: a semiconductor crystal and some sticky tape.
So-called monolayers are at the heart of the research activities. These "super materials" (as the prestigious science magazine "Nature" puts it) have been...
Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.
This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...