A New Study Identifies a Possible Gene Linked to Myelodysplastic Syndromes

A group of researchers studying the causes underlying myelodysplastic syndromes have found that  HIF1A may play an important role in these conditions. For more detailed information, you can read the original article here, at the Cincinnati Children’s Hospital website. You can also view the study the article is based on here.

About Myelodysplastic Syndromes

Myelodysplastic syndromes (MDS), also known as myelodysplasia, are a group of rare blood cancers. According to the NHS, they are most common in people aged between 70 and 80 years old, although anyone can be affected. MDS occurs when a person’s bone marrow begins to produce immature blood cells rather than healthy ones. Over time, this can lead to lower levels of healthy blood cells in the body.

Research into MDS

A study, recently published in the journal Cancer Discovery, suggests that changes to the signalling of HIF1A (hypoxia-inducible factor 1 alpha)may be behind some of the symptoms seen in MDS patients.

According to the source article, HIF1A is a regulatory gene that can influence the behaviour of over one thousand other genes. HIF1A also has an important impact on what cells do in response to metabolic changes and oxygen, and regulates some activities in the bone marrow cells that produce blood cells (called hematopoietic stem cells).

Study Methods

To investigate the role of HIF1A in MDS, the research team began by studying cells that MDS patients had donated, through analysing features such as what messenger RNA molecules were present, and which chemicals were regulating genes in the cells. This research indicated that patients with MDS had dysregulated HIF1A in the donated cells.

Following this discovery, the researchers used genetic mouse models to study MDS to confirm the importance of HIF1A dysregulation in MDS onset. Furthermore, it was shown that inhibiting HIF1A in the mouse models of MDS affected the symptoms of MDS.

Future Research

These findings, although exciting, are still at an early stage in the research process. As the source article points out, these findings do suggest that HIF1A may be “a potential therapeutic target.” However, more research needs to be done into this before its implications become clear.

For more information, you can click here to view the original article.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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