Urea Cycle News and Research

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Urea cycle disorders are congenital diseases that are caused by a dysfunctional urea cycle. The genetics and biochemistry of these disorders have been extensively studied. They are the result of a deficiency of one of the six enzymes that catalyze the various biochemical reactions in the urea cycle which converts ammonia to urea for removal via urine.

Emerging trends in wearable breath sensors aim at personalized healthcare solutions

Using wearable breath sensors to monitor respiratory parameters such as temperature, airflow, and humidity, and to detect various respiratory biomarkers.

26 Mar 2024

A computational model identifies metabolites associated with Parkinson's disease

Researchers identify significant metabolites involved in the development and progression of Parkinson’s disease.

15 Aug 2023

New discovery can revolutionize the diagnosis and treatment of Alzheimer's disease

Recently, a team of South Korean scientists led by Director C. Justin LEE of the Center for Cognition and Sociality within the Institute for Basic Science made a new discovery that can revolutionize both the diagnosis and treatment of Alzheimer's Disease.

17 Apr 2023

New PET imaging breakthrough offers potential Alzheimer's diagnosis and treatment breakthrough

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16 Apr 2023

Researchers develop point-of-care device to facilitate monitoring of hereditary and hepatic metabolic disorders

Ammonium is a biomarker used to diagnose a series of rare hereditary metabolic disorders, such as the primary disorders of the urea cycle and different organic acidemias, as well as other metabolic and environmental conditions affecting the liver's function, which can cause a secondary dysfunction of the urea cycle.

3 Nov 2022

Single-nucleus RNA sequencing and spatial transcriptome atlas of COVID-19 livers

Researchers performed single-nucleus RNA sequencing (snRNA-seq) and spatial transcriptomic profiling of livers from deceased coronavirus disease 2019 (COVID-19) patients.

1 Nov 2022

Study pinpoints a three-pronged approach that makes liver cancer cells stop growing

Liver cancer's rapid growth leads to a vulnerability in its energy-production and cell-building processes that may be potently exploited with a new combination-treatment strategy, according to a study from researchers at the Perelman School of Medicine at the University of Pennsylvania.

3 Aug 2022

Researchers generate and characterize the hepatic organoid culture system

Organoid technologies have become a powerful emerging tool to model liver diseases, for drug screening, and for personalized treatments.

1 Nov 2021

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach.

12 Jul 2021

Researchers identify a common mechanism underlying diverse brain disorders

Researchers at Vanderbilt University Medical Center have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain.

9 Jun 2021

Researchers use base editing to sustainably lower high LDL cholesterol levels

Base editing is a novel gene editing approach that can precisely change individual building blocks in a DNA sequence.

19 May 2021

Minigenes produced by CRISPR combat liver disease in mice

A new gene-editing technique based on CRISPR was used to successfully avoid the development of a liver disease that can be caused by hundreds of mutations, as well as to ease the symptoms in mice. This proof-of-concept study was published online in the journal Science Advances in February 2020.

12 Feb 2020

Arginine depletion could form the basis for potential rheumatoid arthritis therapies

A group from the MedUni Vienna has identified a role for the endogenous amino acid arginine in the growth of osteoclasts in rheumatoid arthritis.

23 Jan 2020

Key mechanism identified for how antiviral immune responses reprogram liver metabolism

Researchers at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences identified a key mechanism for how antiviral immune responses reprogram liver metabolism. Their recent study, which was published in the renowned scientific journal Immunity, investigated the communication between inflammation and liver metabolism during chronic viral infection.

26 Nov 2019

Ammonia levels do not guide clinical management of hepatic encephalopathy in cirrhotic patients

The liver performs several critical functions including filtering blood, detoxifying chemicals and metabolizing drugs.

19 Nov 2019

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

An international research consortium co-led by Andrea L. Gropman, M.D., at Children's National Hospital has received $5 million in federal funding as part of an overall effort to better understand rare diseases and accelerate potential treatments to patients.

24 Oct 2019

Mother calls for protein shake regulation after daughter dies

A mother is calling on the health industry to regulate sales of protein powder and supplements after her daughter died in 2017 due to a protein-heavy diet.

15 Jul 2019

Regenerative medicine scientist receives $1.3 million to study stem cell therapy for liver failure

Currently, the only therapy for metabolic liver disease is an organ transplant. Tracy Grikscheit, MD, an attending physician and regenerative medicine scientist at Children's Hospital Los Angeles, hopes to change that reality.

7 Nov 2018

New genome editing tool used to heal genetic disease

Parents of newborns may be familiar with the metabolic disorder phenylketonuria: in Switzerland, all newborn babies are screened for this genetic disease.

8 Oct 2018

Altered nitrogen metabolism may contribute to emergence of new cancer mutations

Nitrogen is a basic building block of all the body's proteins, RNA and DNA, so cancerous tumors are greedy for this element. Researchers at the Weizmann Institute of Science, in collaboration with colleagues from the National Cancer Institute and elsewhere, have now shown that in many cancers, the patient's nitrogen metabolism is altered, producing detectable changes in the body fluids and contributing to the emergence of new mutations in cancerous tissue.

13 Aug 2018