UNE research unveils breakthrough that could prevent fetal congenital disorders

A recent study published by researchers at the University of New England and the University of Heidelberg in Germany has identified a key aspect of fetal development that may be critical for preventing common fetal congenital conditions. 

这篇论文, titled “Primary Cilia are Critical for Tracheoesophageal Septation,” which was published in the journal Developmental Dynamics in late September, has found that small antennae-like structures found on the surface of cells, 被称为初级纤毛, play a crucial role in directing how our cells align, 单独的, divide to ensure normal development of the 气管 and 食道 in humans.  

该研究由 正规澳门赌场网络骨科医学院 林赛·艾弗里·菲茨西蒙斯博士.D., a postdoctoral research fellow and adjunct instructor, UNE COM's Kerry L. 塔克,Ph值.D., 副教授, 发现了一个基因突变, resulting in the loss of primary cilia in mouse embryos, prevents complete separation of the 气管 and 食道 during fetal development, leading to the formation of a birth defect known as a tracheoesophageal fistula, 或微软. 

这种先天性疾病, commonly seen in the lower respiratory tract of newborns, significantly affects a child’s ability to breathe and feed independently, 菲说. It also increases the likelihood that a newborn will develop frequent lung infections.  

TEF is also one of the hallmark congenital disorders seen in cases of VACTERL association, which affects the development of the 气管 and 食道 along with many other essential organs in the body. According to research published in the Orphanet Journal of Rare Diseases, 大约十分之一,有000名活产婴儿受到这种情况的影响, where infants are born with three or more congenital disorders in specific parts of the body, 比如肛门, 心, 气管, 食道, 肾脏, 或四肢.  

“The primary cilium is becoming more and more relevant to medicine and an important variable to consider in all biomedical research seeking to understand how and why cells behave and respond to their surrounding environment,菲茨西蒙斯说.  

正规澳门赌场网络的研究员塔克说 神经科学卓越中心s, said that while research currently exists surrounding primary cilia in humans, little of it focuses specifically on VACTERL association.  

“Problems with the development of the 气管 and 食道 are not uncommon,塔克说。. “If we can come up with the means of understanding how they arise at the developmental level, the more likely we are to be able to prevent or better treat congenital anomalies as they arise in newborns and in children.” 

Prior research in the field found that primary cilia are involved in organizing cell and organ formation during development, 到成年, especially in the development of an increasing number of common diseases such as osteoarthritis and high blood pressure. 

“By discovering that primary cilia are controlling the formation of developmental defects like TEF and VACTERL, we are providing evidence to support the feasibility and viability of using these structures in the development of medications, 基因筛查, other therapeutic targets for the treatment and prevention of medical conditions both addressing these and beyond these difficult birth conditions,菲茨西蒙斯说. 

A large number of FDA-approved medications are already designed to target the function of the primary cilium, 主要针对癌症患者. These medications have shown promising results from clinical trials research, 她说, adding that she hopes the use of existing drug therapies for the development of non-invasive treatments will continue to be prioritized in biomedical research. 

This research has the potential to impact the prevention and treatment of conditions that affect these vital organs, 塔克补充道, ultimately improving the health and well-being of individuals born with such congenital disorders. 

“We have taken a significant stride towards making a positive impact in addressing this healable condition,塔克说。. “By unraveling the complexities of the primary cilium, we can make considerable headway in the field of medicine and provide a healthier future for affected individuals.”