(Press-News.org)
“In sum, we have defined what a premature aging disease is and developed tools to allow diagnostics of patients and disease population.”
BUFFALO, NY- February 20, 2024 – A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 3, entitled, “Defining the progeria phenome.”
Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. Due to the large variation in clinical presentation the diseases pose a diagnostic challenge for clinicians which consequently restricts medical research. In this new study, researchers Cecilie Worm, Maya Elena Ramirez Schambye, Garik V. Mkrtchyan, Alexander Veviorskiy, Anastasia Shneyderman, Ivan V. Ozerov, Alex Zhavoronkov, Daniela Bakula, and Morten Scheibye-Knudsen from the University of Copenhagen and Insilico Medicine aimed to accommodate this challenge by compiling a list of known progeroid syndromes and calculating the mean prevalence of their associated phenotypes, defining what they term the ‘progeria phenome’.
“In this study, we have utilized phenome explorations to define the phenotypes associated with progerias and to develop tools to diagnose patients and identify new progeroid syndromes.”
The data were used to train a support vector machine that is available at https://www.mitodb.com and able to classify progerias based on phenotypes. Furthermore, this allowed the researchers to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. They detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong association to progeroid syndromes, thereby implying that the syndromes are previously unrecognized progerias.
“In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them.”
Read the full paper: DOI: https://doi.org/10.18632/aging.205537
Corresponding Author: Morten Scheibye-Knudsen
Corresponding Email: mscheibye@sund.ku.dk
Keywords: aging, progeria, premature aging, phenome, clinical phenotype
Click here to sign up for free Altmetric alerts about this article.
About Aging:
Launched in 2009, Aging publishes papers of general interest and biological significance in all fields of aging research and age-related diseases, including cancer—and now, with a special focus on COVID-19 vulnerability as an age-dependent syndrome. Topics in Aging go beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR, among others), and approaches to modulating these signaling pathways.
Please visit our website at www.Aging-US.com and connect with us:
Facebook
X, formerly Twitter
Instagram
YouTube
LinkedIn
Reddit
Pinterest
Spotify, and available wherever you listen to podcasts
Click here to subscribe to Aging publication updates.
For media inquiries, please contact media@impactjournals.com.
Aging (Aging-US) Journal Office
6666 E. Quaker Str., Suite 1B
Orchard Park, NY 14127
Phone: 1-800-922-0957, option 1
###
END
Abigail Lewis traveled all across the United States for college and graduate school, and she ended up researching lakes in her own hometown.
For one of her graduate research projects, Lewis analyzed 656 lakes across five continents with an international research team. The lakes in her hometown of Waukesha, Wisconsin, were among those included.
“To look back and pull together these two parts of my life has been really satisfying,” said Lewis, who will earn her Ph.D. in biological sciences this spring.
In a paper recently published in Global Change Biology, ...
Dr. Mustafa Akbulut, professor of chemical engineering, has teamed up with horticultural science professor Luis Cisneros-Zevallos to engineer longer-lasting, bacteria-free produce.
According to Akbulut’s recent publication in Current Research in Food Science, the global fruit and vegetable market loses over 50% of agricultural fruit production during various stages of produce handling and post-harvest treatments.
Many fruits and vegetables already have a layer of food-grade wax that is applied for cosmetic reasons and to prevent water loss. Akbulut’s research combines such wax with nano-encapsulated cinnamon-bark ...
NEW ORLEANS, LA - Ochsner Children's Hospital, ranked among the top hospitals in the nation for pediatric cardiology and congenital heart surgery, is raising awareness of the need for more pediatric-specific heart devices. As the only pediatric heart transplant program in Louisiana and the only program in the state to offer advanced mechanical support options for pediatric cardiology patients, Ochsner Children’s Hospital is committed to advocating for additional medical devices to enhance its high-quality care to pediatric patients ...
Many electric vehicles are powered by lithium-ion batteries that rely on cobalt — a scarce, expensive metal with high environmental and social costs. A team of researchers from Japanese and French universities have now developed a practical nickel-based electrode material that opens new avenues to cobalt-free batteries for electric vehicles.
The researchers detailed their findings in a study published on Jan. 15 in the journal Energy Storage Materials.
“There is an undeniable need for cobalt-free, high-energy electrode materials for lithium-ion ...
At the heart of advancing semiconductor chip technology lies a critical challenge: creating smaller, more efficient electronic components. This challenge is particularly evident in the field of lithography, the process used to create intricate patterns on semiconductor materials (called wafers) for the production of chips. Lithography uses a kind of template, called a photomask — or just mask — for creating patterns on semiconductor wafers. The industry is always looking for methods that improve resolution and manufacturability for both masks and ...
(MEMPHIS, Tenn., February 20, 2024) St. Jude Children’s Research Hospital has appointed Lisa Jordan, MS, MBA, as the institution’s first-ever Senior Vice President of Technology Commercialization to lead industry partnerships and the commercialization of innovations. Jordan will work with researchers to bring a greater number of new technologies, innovations and scientific breakthroughs to the clinic, enabling breakthroughs from St. Jude laboratories to benefit more patients.
The move, part of the institution’s 2022-2027 ...
A flurry of recent studies has found that microplastics are present in virtually everything we consume, from bottled water to meat and plant-based food. Now, University of New Mexico Health Sciences researchers have used a new analytical tool to measure the microplastics present in human placentas.
In a study published February 17 in the journal Toxicological Sciences, a team led by Matthew Campen, PhD, Regents’ Professor in the UNM Department of Pharmaceutical Sciences, reported finding microplastics in all 62 of the placenta samples tested, with concentrations ranging from 6.5 to 790 micrograms ...
There haven’t been many long-term studies on urban forests, but data collected from the Thain Family Forest, which the New York Botanical Garden (NYBG) has been stewarding for more than a century, has provided an opportunity for scientists from The Forest School at YSE to study a century of changes of its composition.
Using inventory data from 1937-2021, Eliot Nagele ’21 MF, who initiated the research while a forester at Thain and a student at YSE, documented changes in forest structure, diversity, and composition to assess the health of the forest over time. ...
LA JOLLA (February 20, 2024)—Surveys show most men in the United States are interested in using male contraceptives, yet their options remain limited to unreliable condoms or invasive vasectomies. Recent attempts to develop drugs that block sperm production, maturation, or fertilization have had limited success, providing incomplete protection or severe side effects. New approaches to male contraception are needed, but because sperm development is so complex, researchers have struggled to identify parts of the process that can be safely and effectively tinkered ...
Women working in organizations are frequently encouraged to cultivate connections to high-status individuals based on a prominent social network theory. But new research conducted in China and the United States suggests that having high-status connections can backfire for women.
The study, by researchers at Carnegie Mellon University and the University of Michigan, appears in Organizational Science.
“Our findings reveal a social-network dilemma for women that is contrary to a widely accepted belief that women should build their network with high-status individuals,” said Catherine Shea, Assistant Professor of Organizational Behavior and Theory at Carnegie Mellon's Tepper School ...