A potentially life-threatening challenge characterized by pauses in breathing that can last for more than 20 seconds, apnea of prematurity (AOP) affects more than 50 percent of premature infants and is almost universal in the smallest of preemies.
Caused in part by an underdeveloped central nervous system that can't adequately regulate breathing outside of the womb, especially during sleep, AOP is not yet fully understood by scientists and remains a grave concern among neonatologists and parents alike.
New research published in the October issue of Pediatrics by clinical scientists at the University of Massachusetts Medical School suggests that heredity may play a strong role in determining an infant's susceptibility to AOP and could lead to the development of more effective treatments and screening methods.
Because it causes gaps in breathing, AOP can lead to reduced oxygen levels and a slowed heart rate in premature infants, as well as permanent disabilities and long-term damage to internal organs. Requiring around-the-clock monitoring, infants with AOP often must be gently jostled or rubbed to encourage inhalation and continued breathing, but such activities wake the baby, depriving it of much needed sleep. In severe cases, pharmaceutical interventions, such as caffeine, may be required. While the permanent consequences of AOP and its treatments have yet to be fully studied, infants with AOP are more likely to have cognitive and behavior problems, and other long-term disabilities.
"AOP is a medical puzzle," said David Paydarfar, MD, professor of neurology and physiology at the University of Massachusetts Medical School. "Our research seeks to explain why there is so much variability in the incidence and severity of apnea in premature infants and why some infants outgrow the problem much sooner than others."
Elisabeth B. Salisbury, PhD, assistant professor of neurology, Paydarfar, and colleagues compared the rates of AOP in 217 identical and fraternal twin pairs to determine whether heredity played a role in the condition. Using advanced statistical models, they calculated the correlation of the onset of AOP in twins born before 36 weeks gestational age to determine if a genetic component was responsible. What they discovered was that in same-gender twin cases where one fraternal twin suffered from AOP, the other twin had a 62 percent likelihood of also having AOP. In identical twins, the correlation of AOP diagnosis among identical twin pairs was significantly higher – 87 percent.
These findings indicate that genetic influences shared by identical twins play a significant part in developing AOP. "While other factors, including environmental ones, contribute to AOP, our study suggests a surprisingly strong genetic predisposition for AOP. Further research is needed to confirm our results and to find the specific gene or group of genes that are linked to this common developmental disorder of breathing," said Paydarfar.
The next step for Paydarfar, Salisbury, and colleagues is to conduct a genome-wide study of AOP among premature infants in order to identify the gene or genes responsible for the condition. "Our work could lead to future insights on the genetic basis of the disease and ultimately more effective treatments for breathing problems in infants. If we can identify the genes involved, it's possible we could develop screening methods for AOP and to test whether these biomarkers are predictive for respiratory conditions later in life," said Paydarfar.
About the University of Massachusetts Medical School
The University of Massachusetts Medical School, one of the fastest growing academic health centers in the country, has built a reputation as a world-class research institution, consistently producing noteworthy advances in clinical and basic research. The Medical School attracts more than $255 million in research funding annually, 80 percent of which comes from federal funding sources. The work of UMMS researcher Craig Mello, PhD, an investigator of the prestigious Howard Hughes Medical Institute (HHMI), and his colleague Andrew Fire, PhD, then of the Carnegie Institution of Washington, toward the discovery of RNA interference was awarded the 2006 Nobel Prize in Medicine and has spawned a new and promising field of research, the global impact of which may prove astounding. UMMS is the academic partner of UMass Memorial Health Care, the largest health care provider in Central Massachusetts. For more information, visit www.umassmed.edu.
Jim Fessenden | EurekAlert!
Do microplastics harbour additional risks by colonization with harmful bacteria?
05.04.2018 | Leibniz-Institut für Ostseeforschung Warnemünde
Rutgers-led innovation could spur faster, cheaper, nano-based manufacturing
14.02.2018 | Rutgers University
Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.
Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...
Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.
The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...
Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.
Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...
In the fight against cancer, scientists are developing new drugs to hit tumor cells at so far unused weak points. Such a “sore spot” is the protein complex...
In an article that appears in the journal “Review of Modern Physics”, researchers at the Laboratory for Attosecond Physics (LAP) assess the current state of the field of ultrafast physics and consider its implications for future technologies.
Physicists can now control light in both time and space with hitherto unimagined precision. This is particularly true for the ability to generate ultrashort...
13.04.2018 | Event News
12.04.2018 | Event News
09.04.2018 | Event News
19.04.2018 | Materials Sciences
19.04.2018 | Physics and Astronomy
19.04.2018 | Physics and Astronomy