by Researchers at the University of Maryland School of Medicine have made a groundbreaking discovery linking a specific protein similar to hemoglobin, known as cytoglobin, to the proper development of the heart. The findings, published in the journal Nature Communications, provide new insight into the mechanisms that govern the left-right pattern of the heart and other asymmetric organs. This discovery has the potential to lead to the development of therapeutic interventions for congenital heart defects and other rare birth defects related to cilia function.
The research team utilized CRISPR gene editing technologies to deactivate the cytoglobin gene in zebrafish embryos. The absence of cytoglobin resulted in the development of embryos with mirrored hearts, where the left-right pattern was reversed. In humans, cytoglobin plays a role in the regulation of nitric oxide processes, which are essential for maintaining healthy blood flow to organs.
Dr. Mark T. Gladwin, the co-senior author of the study, has been studying the effects of nitric oxide on blood vessels for over two decades. He believes that cytoglobin positively regulates nitric oxide production to ensure proper cilia function, and its absence can lead to significant abnormalities in organ development.
The researchers were amazed to find that the knockout of the cytoglobin gene in zebrafish led to dramatic defects in organ structure and positioning during embryo development. For instance, the heart, which is typically located on the left side, was found on the right side with a leftward looping in the absence of cytoglobin.
Study senior author Dr. Paola Corti explained that cytoglobin plays a critical role in the structure and function of cilia, which are tiny hair-like structures responsible for the asymmetry and proper development of organs. This is the first time that cytoglobin, or any globin protein like hemoglobin, has been linked to fetal development, suggesting a potential connection to birth defects. Moreover, this is the first study to establish a link between cytoglobin and cilia function. This discovery opens the door to developing therapeutics for rare birth defects that affect cilia movement.
Primary Ciliary Dyskinesia (PCD), a rare disease that affects cilia function and can cause breathing difficulties due to airway blockages, affects approximately 1 in every 10,000 to 30,000 people. Kartagener’s syndrome, a form of PCD, is known to cause the type of heart defects observed in the zebrafish models, where the heart is positioned abnormally to the right and rotated. Dr. Corti pointed out that the absence of cytoglobin potentially contributes to the 30% of PCD cases with no known genetic cause.
Elizabeth Rochon, the first author of the study, emphasized the significance of the findings, stating that they traced the phenotype to cilia and observed the role cytoglobin played in cilia function and organ development. In the absence of cytoglobin, defects in organ development were observed.
In conclusion, this groundbreaking study has established a link between cytoglobin and the proper development of the heart and other organs. The findings contribute to our understanding of the mechanisms involved in congenital heart defects and rare birth defects related to cilia function. This discovery paves the way for further research to develop therapeutic interventions for these conditions, providing hope for individuals affected by these defects.
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
Money Singh is a seasoned content writer with over four years of experience in the market research sector. Her expertise spans various industries, including food and beverages, biotechnology, chemical and materials, defense and aerospace, consumer goods, etc.
