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

A new mouse model gave surprising findings about Folling Disease

A new mouse model gave surprising findings about Folling Disease
2021-04-07
(Press-News.org) In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease.

Every year, between 3-7 children are born in Norway with PKU, and this diagnosis has a great impact on the rest of their lives. People with PKU must follow a very strict diet all their lives, where they must avoid almost all foods that contain proteins.

"Failure to implement the diet from birth may result in irreversible physical problems and brain damage, and optimal brain function requires life-long adherence", explains Professor Aurora Martinez at the Department of Biomedicine, University of Bergen.

Higher oxidative stress in mutated mice

The enzyme phenylalanine hydroxylase (PAH) breaks down the amino acid phenylalanine (Phe). People with PKU have mutations in PAH, which results in misfolded, dysfunctional PAH. This leads to the accumulation of toxic levels of Phe in the blood and brain and a Phe-free diet is initiated immediately after diagnosis.

Aurora Martinez's leads a group of researchers that have extensive experience in working with genetic diseases associated with misfolding mutations, especially PKU.

To better understand the disease, they have made a model with mice with one of the most common human mutations of PAH (Pah-R261Q).

Mutated mice and their wild-type siblings were compared in several test, and in many of these the results were very similar for both mice groups.

"The first difference we found was an increase in the weight of the mutated male mice, and together with differences in metabolite profile (measured by Bevital) the results indicated that these mice had an altered lipid metabolism", says Martinez.

Together with studies in metabolism cages, where all mice were given the same standard food, it was shown that at rest wild-type mice used mainly carbohydrates, while the mutated Pah-R261Q mice used more fat and protein as metabolic fuel source.

"These differences pointed to a higher oxidative stress in the mutated mice, and this was not expected based on the customary understanding of PKU", Martinez explains.

Can explain some of the comorbidities found in adult PKU patients

The cause of the oxidative stress was a mystery for a while, but the explanation came when the group examined the livers of the Pah-R261Q mice.

"Mutated PAH enzymes are known to form small and readily degradable aggregates. But what was found here were unexpectedly large aggregates of mutant PAH. The burden of breaking down such large aggregates is a known cause of oxidative stress", says Martinez.

Previously, PKU has only been seen as a disease in which the PAH mutations led to the enzyme losing its catalytic function (the breakdown of Phe), but the results provide an additional understanding of how some mutations also provide a harmful property to PAH, through the formation of large aggregates.

"This may be a possible explanation for some of the comorbidities found in adult PKU patients. In the past, these have been attributed to the high Phe level or as a side effect of being on the strict Phe-free diet, but now there is an additional explanation based the large PAH aggregates and the oxidative stress they inflict on the hepatic cells", Martinez explains.

Going forward, the researchers will see if the findings in this mouse model are also found in human patients with the same mutation by analyzing their blood for markers of oxidative stress and use these markers during testing of specific therapies.

INFORMATION:

The study has been carried out at the Department of Biomedicine at the Faculty of Medicine (UiB), Bevital (Bergen) and University Children's Hospital, Zürich.


[Attachments] See images for this press release:
A new mouse model gave surprising findings about Folling Disease

ELSE PRESS RELEASES FROM THIS DATE:

UMD tracks the adoption of green infrastructure, from water conservation to policy

2021-04-07
In a new paper published in the Journal of Environmental Policy & Planning, the University of Maryland teamed up with local researchers to examine green infrastructure adoption and leadership in Tucson, Arizona, an interesting case study where grassroots efforts have helped to drive policy change in a growing urban area surrounded by water-constrained desert. Green infrastructure (any installation that manages water or environmental factors, such as rain gardens, stormwater basins, or urban tree cover) is slowly transitioning from a fringe activity to an important part of the way governments and municipalities are dealing with water and the local effects of a changing climate. By examining ...

Study revises understanding of cancer metabolism

Study revises understanding of cancer metabolism
2021-04-07
Tumors consume glucose at high rates, but a team of Vanderbilt researchers has discovered that cancer cells themselves are not the culprit, upending models of cancer metabolism that have been developed and refined over the last 100 years. Instead, non-cancer cells in a tumor -- primarily immune cells called macrophages -- have the highest glucose uptake, the group reported April 7 in the journal Nature. The findings that different cells in the tumor microenvironment use distinct nutrients according to their own metabolic programs could be exploited to develop new therapies and imaging strategies, ...

Early indicators of magma viscosity could help forecast a volcano's eruption style

Early indicators of magma viscosity could help forecast a volcanos eruption style
2021-04-07
Washington, DC-- The 2018 eruption of Kīlauea Volcano in Hawai'i provided scientists with an unprecedented opportunity to identify new factors that could help forecast the hazard potential of future eruptions. The properties of the magma inside a volcano affect how an eruption will play out. In particular, the viscosity of this molten rock is a major factor in influencing how hazardous an eruption could be for nearby communities. Very viscous magmas are linked with more powerful explosions because they can block gas from escaping through vents, allowing pressure ...

Childhood cognitive problems could lead to mental health issues in later life

2021-04-07
Children experiencing cognitive problems such as low attention, poor memory or lack of inhibition may later suffer mental health issues as teenagers and young adults, a new study reveals. Targeting specific markers in childhood for early treatment may help to minimise the risk of children developing certain psychopathological problems in adolescence and adult life, such as borderline personality disorder, depression and psychosis. Cognitive deficits are core features of mental disorders and important in predicting long-term prognosis - the researchers' work indicates that individual patterns of such deficits predate ...

Ocular assessments of newborns gestationally exposed to maternal COVID-19 infection

2021-04-07
What The Study Did: This case series examines whether maternal SARS-CoV-2 is associated with outcomes in the eyes of their newborns. Authors: Olívia Pereira Kiappe, M.D., M.Sc., of Universidade Federal de São Paulo in Brazil, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/  (doi:10.1001/jamaophthalmol.2021.1088) Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, ...

Association of race/ethnicity, sex, income with well-being during COVID-19

2021-04-07
What The Study Did: This observational study identifies and quantifies the association of race/ethnicity, sex and income, as well as state-specific lockdown measures, with six well-being dimensions in the United States. Authors: Leigh C. Hamlet, B.S., of the University of Washington in Seattle, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.7373) Editor's Note: The article includes funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, ...

The muon's magnetic moment fits just fine

The muons magnetic moment fits just fine
2021-04-07
A new estimation of the strength of the magnetic field around the muon--a sub-atomic particle similar to, but heavier than, an electron--closes the gap between theory and experimental measurements, bringing it in line with the standard model that has guided particle physics for decades. A paper describing the research by an international team of scientists appears April 8, 2021 in the journal Nature. Twenty years ago, in an experiment at Brookhaven National Laboratory, physicists detected what seemed to be a discrepancy between measurements of the muon's "magnetic ...

New dermatologic presentation associated with SARS-CoV-2 infection

2021-04-07
What The Study Did: Researchers report on the observation of a newly associated mucocutaneous eruption in a pediatric patient with confirmed SARS-CoV-2 infection Authors: Zachary E. Holcomb, M.D., of Boston Children's Hospital, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamadermatol.2021.0385) Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support. INFORMATION: Media advisory: The full study is linked to this news release. Embed this link to provide your readers ...

State immigrant policies and preterm births

2021-04-07
What The Study Did: In this observational study of 3.4 million live births in 2018, criminalizing immigrant policies were associated with higher rates of preterm birth for Black women born outside the U.S., while inclusive immigrant policies were associated with lower preterm birth for all women born outside the U.S.,particularly White women born outside the U.S. Authors: May Sudhinaraset, Ph.D., of the Jonathan and Karin Fielding School of Public Health at the University of California, Los Angeles, is the corresponding author. To access the ...

Projecting cancer cases, types, deaths in US to 2040

2021-04-07
What The Study Did: Researchers projected to the year 2040 what will become the most common and deadly cancers in the United States. Authors: Lola Rahib, Ph.D., of Cancer Commons in Mountain View, California, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.4708) Editor's Note: The article includes funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and ...

LAST 30 PRESS RELEASES:

Crop rotations with beans and peas offer more sustainable and nutritious food production

Five research-backed steps to a pro-vaccination social media campaign

1 in 4 parents give youth sports low rankings for enforcement of COVID-19 guidelines

Doctors still reluctant to prescribe medical cannabis: McMaster

Influence of sea surface temperature in the Indian Ocean on air quality in the Yangtze River Delta region

Frog species with 6 sex chromosomes offer new clues on evolution of complex XY systems

Study reveals the 3D structure of human uterine endometrium and adenomyosis tissue

ETRI develops a haptic film activated by LEDs

Researchers' work will help the pipeline industry limit the destructive power of bubbles

E-cigarettes with a cigarette-like level of nicotine are effective in reducing smoking

Deep Learning model developed at UHN to maximize lifespan after liver transplant 

Convenience over reputation: Study looks at how older adults pick a doctor

Ocean bacteria release carbon into the atmosphere

Spotting cows from space

Scientists watch 2D puddles of electrons emerge in a 3D superconducting material

Research suggests SEC's increasing focus on terrorism may limit financial oversight

Plastic planet: Tracking pervasive microplastics across the globe

Gut epithelium muscles up against infection

Scientists discover three liquid phases in aerosol particles

New mechanism identified behind blindness in older adults

Common approach to diversity in higher education reflects preferences of white Americans

Study reveals cancer immunotherapy patients at most risk of life-threatening side effects

Study reveals crucial details on skin-related side effects of cancer immune therapies

Researchers identify surface protein as a new osteosarcoma therapeutic target for antibody-drug conjugates

Differences in B cell responses to coronaviruses and other pathogens in children and adults

Bottom-up is the way forward for nitrogen reduction at institutions

Road salts and other human sources are threatening world's freshwater supplies

Researchers engineer probiotic yeast to produce beta-carotene

Spanking may affect the brain development of a child

UConn researchers find bubbles speed up energy transfer

[Press-News.org] A new mouse model gave surprising findings about Folling Disease