Nav: Home

Researchers reveal developmental mechanisms behind rare bone marrow disorder

April 12, 2017

Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charité - Universitätsmedizin Berlin have found that a mutation in a specific tumor suppressor gene is one possible reason why children with a very rare genetic disorder develop myelodysplastic syndrome. Results from this research have been published in the current edition of the Journal of Clinical Investigation*.

The key symptoms of myelodysplastic syndrome (MDS) are a shortage of fully-functional red blood cells (erythrocytes), a shortage of certain white blood cells (leukocytes), and a shortage of platelets (thrombocytes). In a healthy person, these three types of cells are produced in the bone marrow. In patients with MDS, blood cell production is disrupted - a condition which may result in these patients progressing to acute myeloid leukemia (AML).

While looking for the cause of a rare disease, a team of researchers led by Prof. Dr. Annette Grüter-Kieslich, Head of the Department of Pediatric Endocrinology and Diabetology, discovered a potential trigger for MDS development in children with monosomy 7 of the bone marrow. All of these children had lost one copy of chromosome 7, whereas normally, a person has two copies of each of the 23 chromosomes found in the human body.

Working with colleagues in England and Freiburg, the researchers studied a total of seven children, all of whom presented with similar symptoms: congenital adrenal insufficiency, gonadal failure, and severe pulmonary infections. Using innovative genetic testing methods, the researchers identified mutations in a tumor suppressor gene, SAMD9, which is located on chromosome 7. Through additional testing in different cell systems, the researchers were able to show that these inherited mutations were responsible for the children's severe developmental problems. They were also able to show that both monosomy 7 and myelodysplastic syndrome developed in response to these mutations.

"Bone marrow cells which have lost the mutated chromosome 7 have a considerable selection advantage," explains Prof. Annette Grüters-Kieslich. She adds: "In patients with malignant conditions, complete or partial chromosome loss may not be a random event. Instead, it may represent a mechanism specifically aimed at eliminating genetic defects. The significance of this developmental mechanism for myelodysplasia, which has been described here for the first time, may therefore reach far beyond this rather rare disease."

The researchers are hoping to work with other centers in order to test whether SAMD9 mutations may also be responsible for causing other subtypes of myelodysplastic syndrome.
-end-


Charité - Universitätsmedizin Berlin

Related Bone Marrow Articles:

Viagra shows promise for use in bone marrow transplants
Researchers at UC Santa Cruz have demonstrated a new, rapid method to obtain donor stem cells for bone marrow transplants using a combination of Viagra and a second drug called Plerixafor.
Bone marrow may be the missing piece of the fertility puzzle
A woman's bone marrow may determine her ability to start and sustain a pregnancy, report Yale researchers in PLOS Biology.
Cells that make bone marrow also travel to the womb to help pregnancy
Bone marrow-derived cells play a role in changes to the mouse uterus before and during pregnancy, enabling implantation of the embryo and reducing pregnancy loss, according to research published Sept.
Uncovering secrets of bone marrow cells and how they differentiate
Researchers mapped distinct bone marrow niche populations and their differentiation paths for the bone marrow factory that starts from mesenchymal stromal cells and ends with three types of cells -- fat cells, bone-making cells and cartilage-making cells.
Zebrafish help researchers explore alternatives to bone marrow donation
UC San Diego researchers discover new role for epidermal growth factor receptor in blood stem cell development, a crucial key to being able to generate them in the laboratory, and circumvent the need for bone marrow donation.
New material will allow abandoning bone marrow transplantation
Scientists from the National University of Science and Technology 'MISIS' developed nanomaterial, which will be able to restore the internal structure of bones damaged due to osteoporosis and osteomyelitis.
Blood diseases cured with bone marrow transplant
Doubling the low amount of total body radiation delivered to patients undergoing bone marrow transplants with donor cells that are only 'half-matched' increased the rate of engraftment from only about 50 percent to nearly 100 percent, according to a new study by Johns Hopkins researchers.
Vitamin D and immune cells stimulate bone marrow disease
The bone marrow disease myelofibrosis is stimulated by excessive signaling from vitamin D and immune cells known as macrophages, reveals a Japanese research team.
Malignant bone marrow disease: New hope for MPN patients
Myeloproliferative neoplasms (MPNs) are still difficult to treat. A team from Vetmeduni Vienna and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences/Medical University of Vienna has discovered a new therapeutic approach that could fundamentally change this situation, as evidenced by a study that was published recently in the academic journal Blood.
Scientists have identified a bone marrow backup system
New research from the Stowers Institute for Medical Research has identified a backup for an important biological system -- the hematopoietic system, whose adult stem cells constantly replenish the body's blood supply.
More Bone Marrow News and Bone Marrow Current Events

Top Science Podcasts

We have hand picked the top science podcasts of 2019.
Now Playing: TED Radio Hour

Accessing Better Health
Essential health care is a right, not a privilege ... or is it? This hour, TED speakers explore how we can give everyone access to a healthier way of life, despite who you are or where you live. Guests include physician Raj Panjabi, former NYC health commissioner Mary Bassett, researcher Michael Hendryx, and neuroscientist Rachel Wurzman.
Now Playing: Science for the People

#544 Prosperity Without Growth
The societies we live in are organised around growth, objects, and driving forward a constantly expanding economy as benchmarks of success and prosperity. But this growing consumption at all costs is at odds with our understanding of what our planet can support. How do we lower the environmental impact of economic activity? How do we redefine success and prosperity separate from GDP, which politicians and governments have focused on for decades? We speak with ecological economist Tim Jackson, Professor of Sustainable Development at the University of Surrey, Director of the Centre for the Understanding of Sustainable Propserity, and author of...
Now Playing: Radiolab

An Announcement from Radiolab