PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

A novel gene discovery associated with a development disorder of pituitary origin

A novel gene discovery associated with a development disorder of pituitary origin
2021-02-22
(Press-News.org) The pituitary gland is a pea-sized endocrine gland composed of two structurally and functionally separate parts known as anterior and posterior lobes. The pituitary gland's anterior lobe secretes six hormones essential to growth, reproduction, and other basic physiological functions. Abnormal development of the pituitary gland, or hypopituitarism, can cause mild or complete deficiency of one or more pituitary hormones, which manifests as highly varying symptoms. Tumours mainly cause hypopituitarism in humans, but a congenital factor can also be associated with the disorder.

The POU1F1 gene regulates the development of the anterior pituitary lobe, and disruption to its function results in hormonal changes, evidenced in affected dogs as dwarfism and coat abnormalities. A gene test developed based on the findings supports diagnostics and a breeding programme to eradicate the disease from the breed.

"Roughly 30 genes have been associated with inherited hypopituitarism in humans, many of which are regulator genes, which affect the development of the pituitary gland. In addition to humans, impaired pituitary function occurs in mice and dogs. In German Shepherds, hypopituitarism has previously been associated with the LHX3 gene, while in the case of Karelian Bear Dogs, the disease was described in Denmark already 45 years ago. Now, we have identified a related cause in the POU1F1 gene. This is only the second new canine model for human pituitary disease, making it quite significant," says Professor Hannes Lohi.

Samples for the study were collected from Finnish and Swedish symptomatic and asymptomatic Karelian Bear Dogs.

"We managed to get samples from a total of eight sick puppies from five different litters. The puppies were as much as 20 centimetres smaller than normal, with many of them also having a puppy-like coat or substantial hair loss. Typical of the disease, their symptoms were varied. A handful of carriers of the POU1F1 variant were also found in Lapponian Herders in an analysis encompassing more than 8,000 dogs," says Kaisa Kyöstilä, PhD, the first author of the article.

The study confirmed that the disease is inherited recessively, meaning that the affected dogs inherit the gene variant from both parents. Among Karelian Bear Dogs, only 8% of the breed carries the defect, and carriers do not develop the disease. The gene test based on the research finding can be used to identify carriers, avoid carrier-carrier combinations in breeding and eradicate this severe disease from the breed altogether.

The latest POU1F1 gene discovery is already the third disease gene described in Karelian Bear Dogs. The research group has previously described gene finds associated with dwarfism (link in Finnish only) and hypophosphatasia.

INFORMATION:

The study is part of Professor Hannes Lohi's gene research programme at the Faculties of Veterinary Medicine and Medicine, University of Helsinki, and the Folkhälsan Research Center. This study was partially supported by the Canine Health Research Fund, the Jane and Aatos Erkko Foundation, the Academy of Finland, HiLIFE - the Helsinki Institute of Life Science and Wisdom Health.


[Attachments] See images for this press release:
A novel gene discovery associated with a development disorder of pituitary origin

ELSE PRESS RELEASES FROM THIS DATE:

A fifth of adults in Sweden report dental anxiety

A fifth of adults in Sweden report dental anxiety
2021-02-22
In Sweden, approximately one in five adults suffers from dental anxiety or phobia. The number has decreased over time, but still an important part of the population have major problems, according to a recent doctoral thesis from the University of Gothenburg. The thesis includes a nationwide interview study involving 3,500 adult individuals, randomly selected from the general population of Sweden. Nineteen percent of the participants reported some degree of dental anxiety, fear or phobia. The results showed that 4.7% of the respondents described their dental anxiety as severe, 4.5% as moderate and 9.8% as low. The remaining 80.9% reported no dental anxiety. The proportion with no dental ...

Scientists claim that all high-energy cosmic neutrinos are born by quasars

Scientists claim that all high-energy cosmic neutrinos are born by quasars
2021-02-22
Scientists of the P. N. Lebedev Physical Institute of the Russian Academy of Sciences (LPI RAS), the Moscow Institute of Physics and Technology (MIPT) and the Institute for Nuclear Research of RAS (INR RAS) studied the arrival directions of astrophysical neutrinos with energies more than a trillion electronvolts (TeV) and came to an unexpected conclusion: all of them are born near black holes in the centers of distant active galaxies powerful radio sources. Previously, only neutrinos with the highest energies were assumed to be obtained in sources of this class. It is believed that there are massive black holes in the centers ...

Scientists model a peculiar type of breast cancer

Scientists model a peculiar type of breast cancer
2021-02-22
Invasive lobular carcinoma (ILC) is a type of breast cancer that begins in the milk-producing glands (lobules) of the breast. It covers 10-15% of all breast cancer cases, has a high risk of late recurrence, unique metastatic sites, high sensitivity to hormones, unpredictable responses to therapies, unique histopathology, distinctive biology, and resists chemotherapy. More than 90% of ILC tumors also contain estrogen receptors, meaning that they can receive hormone signals from the body e.g. estradiol, that can spur their growth and metastasis. Despite all this, ILC is relatively understudied compared to other breast cancers, and as a result, there have been very few models developed to study it. The reason is ...

Terrestrial laser scanning for monitoring hydrological cycle of trees

2021-02-22
Water is an essential element for all living things. Understanding the dynamics of water in trees is crucial for understanding the consequences of climate change and altered water availability for forest ecosystems. This study, which is a product of a joint research project with Samuli Junttila PhD, and Professor Masato Katoh of Shinshu University's Institute for Mountain Science and others demonstrates a new laser scanning based method that can be used to monitor changes in leaf water content of tree communities. Lasers can be used to measure and monitor the leaf water content of trees and plants, because the reflection of laser light at the shortwave infrared region is changed due to varying leaf water ...

Plant responses to climate are lagged

2021-02-22
Two in five of the world's plant species are at risk of extinction. In the face of climate change, understanding why certain plant species are vulnerable to extinction while others prevail is more urgent than ever before. Previous studies linking climate and plant vital rates have found relatively modest effects, sometimes leading to the conclusion that other threats, such as land use change, may still be more important than climate drivers. However, these conclusions could result from wrong assumptions about which times of the year (which "time window") climate ...

Attachable skin monitors that wick the sweat away?

Attachable skin monitors that wick the sweat away?
2021-02-22
- A silicone membrane for wearable devices is more comfortable and breathable thanks to better-sized pores made with the help of citric acid crystals. - A new preparation technique fabricates thin, silicone-based patches that rapidly wick water away from the skin. The technique could reduce the redness and itching caused by wearable biosensors that trap sweat beneath them. The technique was developed by bioengineer and professor Young-Ho Cho and his colleagues at KAIST and reported in the journal Scientific Reports last month. "Wearable bioelectronics are becoming more attractive for the day-to-day monitoring of biological compounds ...

Dozens of new lichen species discovered in East African mountain forests

Dozens of new lichen species discovered in East African mountain forests
2021-02-22
"The lengthy groundwork is finally complete," says Jouko Rikkinen, Professor of Botany at the University of Helsinki, Finland, giving a sigh of relief. The research article just published focuses on species diversity in the genus Leptogium, a group of jelly lichens that are common in the mountain forests of East Africa. Thousands of lichen specimens were collected from Kenya and Tanzania in 2009-2017, including nearly 600 Leptogium specimens. DNA analyses revealed that the dataset on Leptogium included more than 70 different species, of which no more than a dozen or so are previously known. DNA analyses were necessary, as ...

Absence of natural killer cell receptor associated with severe Covid-19

2021-02-22
The course and severity of COVID-19 in individual patients is largely influenced by the interaction between the SARS-CoV-2 coronavirus and the human immune system. Normally, the antiviral immune response of natural killer cells (NK cells) is an important step in combating viral replication in the early phase of the infection. On their surface, these killer cells have special, activating receptors, including the NKG2C receptor, which communicates with an infected cell via one of its specialised surface structures, HLA-E. This interaction results in the destruction of virus-infected cells. However, due to a genetic ...

Should Uber and Lyft be electrifying more vehicles?

2021-02-22
Professor Jeremy Michalek and his Ph.D student Matthew Bruchon have published a study investigating what vehicle electrification would look like in a world where ridesourcing companies like Uber and Lyft were held responsible for the air pollution and carbon emissions created by their business. Ridesourcing has changed the way people travel, affecting air emissions in the process. Researchers like those at the Center for Air, Climate and Energy Solutions (CACES) have quantified the negative health effects of airborne particulates created by cars in rates of cardiovascular and respiratory disease, and they're also the largest source of greenhouse gasses in the US. With public sector fleets such as the US Postal Service ...

Neural pathway critical to correcting behavioral errors related to psych disorders found

Neural pathway critical to correcting behavioral errors related to psych disorders found
2021-02-22
Mount Sinai researchers have identified a neural pathway through which the brain detects errors and guides subsequent behavioral improvement. This process, called cognitive control, is frequently dysregulated in a wide range of psychiatric disorders. The team's research, published February 19 in Neuron, also suggests that neurostimulation of this brain pathway could provide an important mechanism for attention adjustments following behavioral errors. When errors are committed, such as missing a stop sign or running a red light while driving, it's important for our survival to immediately adapt behavior by paying more attention to prevent further errors. This ability to adapt behavior after erroneous actions is one of the key components of human cognitive control. "Deficits ...

LAST 30 PRESS RELEASES:

Eating rate has sustained effects on energy intake from ultra-processed diets, new study reveals

Rise in expectant mothers in UK with autoimmune diseases since millennium

Majority of riders and drivers in UK 'gig economy' suffer anxiety over ratings and pay, study suggests

Virginia Tech researchers develop recyclable, healable electronics

Cognitive outcomes similar after noncardiac surgery whether perioperative hypotension- or hypertension-avoidance strategies employed

Research spotlight: regional disparities in opioid overdose mortality persist despite national decline

Fighting myeloma with fiber: Plant-based diet offers promise

What makes someone leave a Medicare Advantage plan?

ASCO: New antibody-drug conjugate shows promising safety and response rates for patients with rare blood cancer

Advancing personalized medicine through pharmacogenomics: Insights from Ochsner Health

Researchers tested an asthma drug for treating alcoholism. It failed except with this group

Set it and forget it: Autonomous structures can be programmed to jump days in advance

Iron from coal, steel industries alters North Pacific ecosystem

Canadian researcher receives funding from ARIA to unlock potential of plants

Visionary support from Veale Foundation will establish university hospitals Veale Healthcare Transformation Institute

Investigating cocaine addiction using fruit flies

Fruit flies on cocaine could reveal better therapies for addiction

New data shows MMR vaccination rate decline across US

Clinical validation of a circulating tumor DNA–based blood test to screen for colorectal cancer

Screening colonoscopy yields among adults ages 45 to 49 after lowering the colon cancer screening age

Trends in county-level MMR vaccination coverage in children in the United States

Brewed for longevity: drinking coffee linked with healthy aging in women

Researchers find early driver of prostate cancer aggressiveness

Insect protein blocks bacterial infection

New study casts doubt on the likelihood of a Milky Way – Andromeda collision

Prevalence of artificial sweetener neotame in U.S.-marketed disposable e-cigarettes

E-cigarette warnings lower vaping interest and raise quit intentions

Record high: Study finds growing cannabis use among older adults

Trends in past-month cannabis use among older adults

How to create aqueous 100 nm-sized materials with polycavities

[Press-News.org] A novel gene discovery associated with a development disorder of pituitary origin