Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Researchers identify the gene responsible for a rare form of congenital anemia

Clinical research team identified three families from Canada’s Maritime provinces, each with a child suffering from this disease

The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia, a rare disease, mainly characterized by the presence of ringed sideroblasts in the patients' bone marrow.

This Genome Canada project, co-directed by Dr. Mark Samuels, an investigator with the Sainte-Justine University Hospital Research Center and a professor at the Université de Montréal Department of Medicine, is being conducted under the Atlantic Medical Genetics and Genomics Initiative (AMGGI).

The clinical research team identified three families from Canada's Maritime provinces, each with a child suffering from this disease. Even though these families were not related officially, it seemed very likely that it was possible to establish a genealogical link uniting them generations ago and that they exhibited what is called a founder effect.

Thanks to the new technologies developed by the Human Genome Project, the AMGGI's molecular analysis team succeeded in delimiting a genomic region likely to contain the gene responsible for congenital sideroblastic anemia in these families.

The direct resequencing of this gene made it possible to identify a causal mutation in a gene to which no physiological role could have been attributed. Subsequently, in collaboration with researchers in the United States, the team identified 10 additional causal mutations of this gene in other unexplained cases of congenital sideroblastic anemia. In collaboration with the laboratory of Dr. Louis Saint-Amant of the Université de Montréal's Department of Pathology, the research team showed a direct role of the gene in hemoglobin synthesis in zebra fish.

The gene identified is part of a gene family involved in the transport of nutrients to and from the mitochondria, the power plant of the cells. Some mutations of other members of this gene family cause distinct genetic diseases in humans, but this is the first disease of this type associated with the SLC25A38 gene.

The identification of the causal gene can now offer patients and their family members direct molecular confirmation of their condition, allowing them to know whether they are sufferers or asymptomatic carriers of the disease. More generally, this discovery shows that even well-known scientific processes, such as hemoglobin biosynthesis, still have surprises in store.

On the Web:

About the Sainte-Justine University Hospital Research Center:

About the Université de Montréal:

Media contacts:
Mélanie Dallaire
CHU Sainte-Justine
Telephone: 514-345-7707
Sophie Langlois
Université de Montréal
Telephone: 514-343-7704

Mélanie Dallaire | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht When fat cells change their colour
28.10.2016 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht Aquaculture: Clear Water Thanks to Cork
28.10.2016 | Technologie Lizenz-Büro (TLB) der Baden-Württembergischen Hochschulen GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Novel light sources made of 2D materials

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...

Im Focus: Etching Microstructures with Lasers

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...

Im Focus: Light-driven atomic rotations excite magnetic waves

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...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

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...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

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...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Prototype device for measuring graphene-based electromagnetic radiation created

28.10.2016 | Power and Electrical Engineering

Gamma ray camera offers new view on ultra-high energy electrons in plasma

28.10.2016 | Physics and Astronomy

When fat cells change their colour

28.10.2016 | Life Sciences

More VideoLinks >>>