Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene responsible for anemia (type CDA-1) discovered

17.12.2002


A rare type of the disease found mainly in Bedouins may provide insight into anemia



A combined effort between scientists at Schneider Children’s Medical Center of Israel, Tel Aviv University, and the Weizmann Institute of Science has led to the discovery of a gene responsible for a type of anemia primarily found in a number of Bedouin families, called congenital dyserythropoietic anemia-1 (CDA-1). The findings, published in the December issue of The American Journal for Human Genetics, could lead to effective detection and eventually treatment of the disease. In addition, understanding the role of this gene’s protein product in the body could provide important clues to other types of anemia, as well as to the general mechanisms of blood cell formation.
CDA-1 is characterized by a medium to high deficiency in blood production, and in critical cases patients must receive blood transfusions throughout their lifetime. It is a rare disease present worldwide, but the largest vulnerable group is the Negev Desert’s Bedouin population, where marriage among relatives is common. The high disease prevalence in this Israeli population was crucial to the identification of the CDA-1 gene.

The study group included 45 Bedouins treated by Dr. Hannah Shalev at the Soroka Medical Center in Beer Sheva. Initially, a team headed by Dr. Hannah Tamary, who works both at Schneider and the Felsenstein Medical Research Center in Tel Aviv University’s Faculty of Medicine, narrowed down the search for the gene to a region on a specific chromosome (chromosome15) . To uncover the gene in that region, they then turned to Profs. Doron Lancet and Jacques S. Beckmann of the Crown Human Genome Center at the Weizmann Institute’s Molecular Genetics Department. Both teams, after four years of intensive research, discovered and characterized the previously unknown gene, named CDAN1.



Dr. Orly Degani, who works with Tamary, says: "The genomic region within which the gene for CDA-1 was hiding was unusually complex. In some of the patients, a complete DNA segment was missing, but it turned out that this did not cause the disease."

"We thought fifteen genes were good candidates," says Dr. Nili Avidan, who works with Beckmann and Lancet. "We began checking them one after the other, from short, defined genes to long, putative ones. This gene was one before the last."

The researchers observed that mutations in this specific gene correlate with the disease. These mutations modify a previously unknown protein, which they named Codanin-1. The protein, they suspect, is present in the nuclear envelope of bone marrow cells, which divide and give rise to red blood cells. Studies of this protein, which may become an important pharmaceutical target similar to erythropoietin (EPO) may yield a better understanding of blood cell maturation and anemia and eventually lead to an effective remedy for CDA-1.

Prof Lancet’s research is supported by Wolfson Family Charitable Trust, Crown Human Genome Center, Henri and Francoise Glasberg Foundation, Alfried Krupp von Bohlen und Halbach Foundation, Kalman & Ida Wolens Foundation, the Avraham and Yehudit (Judy) Goldwasser Fund, Ms. Emilia Mosseri, London, Mr. James Klutznick, Chicago, IL and the Jean-Jacques Brunschwig Memorial Fund.

Prof. Lancet is the incumbent of the Ralph and Lois Silver Professorial Chair in Human Genomics.

Jeffrey J. Sussman | EurekAlert!

More articles from Life Sciences:

nachricht Decoding the genome's cryptic language
27.02.2017 | University of California - San Diego

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Safe glide at total engine failure with ELA-inside

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded after a glide flight with an Airbus A320 in ditching on the Hudson River. All 155 people on board were saved.

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded...

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

New pop-up strategy inspired by cuts, not folds

27.02.2017 | Materials Sciences

Sandia uses confined nanoparticles to improve hydrogen storage materials performance

27.02.2017 | Interdisciplinary Research

Decoding the genome's cryptic language

27.02.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>