(Press-News.org) Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.
When this Noonan syndrome mutation arises in a normal sperm stem cell it makes that cell more likely to reproduce itself than stem cells lacking the mutation. The father then is more likely to have an affected child because more mutant stem cells result in more mutant sperm. The longer the man waits to have children the greater the chance of having a child with Noonan syndrome.
Noonan Syndrome is among the most common genetic diseases with a simple inheritance pattern. About one of every 4,000 live births is a child with a new disease mutation. The disease can cause craniofacial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.
By examining the testes from 15 unaffected men, a team led by USC molecular and computational biologists Norman Arnheim and Peter Calabrese found that the new mutations were highly clustered in the testis, and that the overall proportion of mutated stem cells increased with age. Their computational analysis indicated that the mutation gave a selective edge over non-mutated cells.
"There is competition between stem cells with and without the mutation in each individual testis," said Arnheim, who has joint appointments at the USC Dornsife College of Letters, Arts and Sciences and the Keck School of Medicine of USC. "But what is also unusual in this case is that the mutation which confers the advantage to testis stem cells is disadvantageous to any offspring that inherits it."
The new findings also suggest an important new molecular mechanism to explain how certain genetic disease mutations can alter sperm stem cell function leading to exceptionally high frequencies of new cases every generation.
###
The Arnheim and Calabrese team included USC postdoctoral research associates Song-Ro Yoon, and Soo-Kung Choi, graduate student Jordan Eboreime and Dr. Bruce D. Gelb of the Icahn School of Medicine at Mount Sinai in New York City. A paper detailing their research will be published on June 6 in The American Journal of Human Genetics.
This research was supported by the National Institute of General Medical Sciences grant number R01GM36745 and the National Heart, Lung and Blood Institute (National Institutes of Health) grant number HL071207.
Common genetic disease linked to father's age
Genetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children
2013-06-07
ELSE PRESS RELEASES FROM THIS DATE:
Making sense of patterns in the Twitterverse
2013-06-07
RICHLAND, Wash. – If you think keeping up with what's happening via Twitter, Facebook and other social media is like drinking from a fire hose, multiply that by 7 billion – and you'll have a sense of what Court Corley wakes up to every morning.
Corley, a data scientist at the Department of Energy's Pacific Northwest National Laboratory, has created a powerful digital system capable of analyzing billions of tweets and other social media messages in just seconds, in an effort to discover patterns and make sense of all the information. His social media analysis tool, dubbed ...
Magpies take decisions faster when humans look at them
2013-06-07
Researchers from the Seoul National University found that wild birds appear to "think faster" when humans, and possibly predators in general, are directly looking at them.
"We started this study from our experience" says Dr. Sang-im Lee, the leader of magpie research team and the first author of the paper. "For a long time we had this impression that somehow magpies know that we are watching them because they often fly away from us when we observe them. But when we don't observe them, we can pass them pretty close-by but they don't fly away!"
The finding that animals ...
Whispering light hears liquids talk
2013-06-07
Ever been to a whispering gallery—a quiet, circular space underneath an old cathedral dome that captures and amplifies sounds as quiet as a whisper? Researchers at the University of Illinois at Urbana-Champaign are applying similar principles in the development optomechanical sensors that will help unlock vibrational secrets of chemical and biological samples at the nanoscale.
"Optomechanics is an area of research in which extremely minute forces exerted by light (for example: radiation pressure, gradient force, electrostriction) are used to generate and control high-frequency ...
3 out of 20 scopes used to examine GI tracts and colons improperly cleaned
2013-06-07
Fort Lauderdale, Fla., June 7, 2013 - Three out of 20 flexible gastrointestinal (GI) endoscopes used for screening were found to harbor unacceptable levels of "bio dirt" – cells and matter from a patient's body that could pose potential infection risk -- according to a study of endoscopes used at five hospitals across the U.S.
In an abstract to be presented at the 40th Annual Conference of the Association for Professionals in Infection Control and Epidemiology (APIC), researchers in the 3M Infection Prevention Division analyzed 275 flexible duodenoscopes, gastroscopes, ...
Mandatory flu vaccination of healthcare personnel does not lead to worker exodus
2013-06-07
Fort Lauderdale, Fla., June 7, 2013 – Mandatory influenza (flu) vaccination, as a condition of employment, did not lead to excessive voluntary termination, according to a four-year analysis of vaccination rates at Loyola University Medical Center in Maywood, IL.
Flu infections result in approximately 150,000 hospital admissions and 24,000 deaths annually.1 The Centers for Disease Control and Prevention (CDC) recommends that all healthcare personnel (HCP) receive the annual flu vaccine, yet the national average for HCP vaccination is only 64 percent.
Infection control ...
Oh brother, where art thou?
2013-06-07
The results indicate that level of familiarity does not affect the stickleback's ability to recognize kin. Recognition based on phenotype matching or innate recognition thus seems to be the overruling mechanism when it comes to choosing members of a peer group.
Numerous species, from microbes to humans and even plants, are able to distinguish relatives from others of their kind. However, it has proven remarkably difficult to uncover the underlying mechanisms. When family members remain together for life, it is likely that recognition of relatives is based on familiarity. ...
New research findings on onset of uterine fibroids provide potential for novel treatments
2013-06-07
Uterine leiomyomata, or fibroids, are benign tumours that nevertheless affect the health of millions of women. They may cause, for instance, pain, bleeding and infertility. Fibroids are also the most common reason for a hysterectomy; for example, some 8,000 hysterectomies are made in Finland each year.
Scientists at the Academy of Finland's Centre of Excellence in Cancer Genetics Research have identified the molecular mechanisms underlying the onset of common leiomyomata. The results of their research were published in the top medical journal New England Journal of Medicine ...
'Long-awaited explanation' for mysterious effects in high-temperature superconductors
2013-06-07
A German-French research team has constructed a new model that explains how the so-called pseudogap state forms in high-temperature superconductors. The calculations predict two coexisting electron orders. Below a certain temperature, superconductors lose their electrical resistance and can conduct electricity without loss. "It is not to be excluded that the new pseudogap theory also provides the long-awaited explanation for why, in contrast to conventional metallic superconductors, certain ceramic copper oxide bonds lose their electrical resistance at such unusually high ...
Detection of apple juices and cereals which exceed permitted levels of mycotoxins
2013-06-07
VIDEO:
This video discusses the detection of excessive levels of mycotoxins in apple juices and cereals.
Click here for more information.
Researchers from the University of Granada (Spain) have analysed the presence of patulin, a type of toxin produced by fungi, in several commercial apple juices. The results show that more than 50% of the samples analysed exceed the maximum limits laid down by law. They have also discovered a sample of rice with more mycotoxins than permitted. ...
Optogenetics is proving to be highly promising in the treatment of obsessive-compulsive disorders
2013-06-07
By applying light stimulation to highly specific neurons in the brain, the researchers managed to re-establish normal behaviour in mice that had beforehand presented pathological repetitive behaviour similar to that observed in human patients suffering from obsessive-compulsive disorders.
These results are published in the journal Science of June 7th 2013.
Repetitive behaviour is characterised by a certain number of neuro-psychiatric disorders, in particular obsessive-compulsive disorders, that develop to such an extent that they become a real handicap to daily life ...
LAST 30 PRESS RELEASES:
Study examines grief of zoo employees and volunteers across the US after animal losses
National study underway to test new mechanical heart pump
Antarctica’s only native insect’s unique survival mechanism
How Earth's early cycles shaped the chemistry of life
Ukraine war forces planes to take longer routes, raising CO2
Negative refraction of light using atoms instead of metamaterials
High BP may develop at different ages and paces in East & South Asian adults in the UK
Meet the newly discovered brain cell that allows you to remember objects
Engineered animals show new way to fight mercury pollution
The 3,000-year coral reef shutdown: a mysterious pause and a remarkable recovery
Worm surface chemistry reveals secrets to their development and survival
Splicing twins: unravelling the secrets of the minor spliceosome complex
500-year-old Transylvanian diaries show how the Little Ice Age completely changed life and death in the region
Overcoming nicotine withdrawal: Clues found in neural mechanisms of the brain
Survey: Women prefer female doctors, but finding one for heart health can be difficult
Leaf color mysteries unveiled: the role of BoYgl-2 in cabbage
NUS Medicine study: Inability of cells to recycle fats can spell disease
D2-GCN: a graph convolutional network with dynamic disentanglement for node classification
Female hoverflies beat males on long-distance migrations
Study finds consumer openness to smoke-impacted wines, offering new market opportunities
Why we need to expand the search for climate-friendly microalgae
Fewer forest fires burn in North America today than in the past—and that's a bad thing
Older people in England are happier now than before the COVID pandemic, new national study suggests
Texas A&M chemist wins NSF CAREER Award
Micro-nano plastics make other pollutants more dangerous to plants and intestinal cells
Study of female genital tract reveals key findings
Pitt Engineering Professor Fang Peng elected to National Academy of Engineering
Short-course radiation therapy effective for endometrial cancer patients
Breast cancer treatment advances with light-activated ‘smart bomb’
JSCAI article at THT 2025 sets the standard for training pathways in interventional heart failure
[Press-News.org] Common genetic disease linked to father's ageGenetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children