Nav: Home

CU Anschutz scientists identify genetic causes of mitochondrial diseases

October 03, 2018

AURORA, Colo. (Oct. 3, 2018) - An international team of scientists led by researchers from the University of Colorado School of Medicine have identified previously unknown genetic causes of mitochondrial diseases.

The findings are published in the October 3 edition of the journal Nature Communications. Johan Van Hove, MD, PhD, professor of pediatrics at the CU School of Medicine, is the senior author and Marisa Friederich, PhD, assistant professor of pediatrics, is the first author of the article, which lists 54 co-authors from around the world.

The team studied five families with infants who had cardiomyopathy and excess acid in their blood, which appears when the cell's energy-generating system malfunctions. In these cases, the conditions appeared prenatally or when the newborn was two to five months old. In all cases, the child died before turning seven months old. One of the five families was from Colorado.

Mitochondria, which are present in almost every cell in the body, create the energy needed to sustain life and support organ function. Failure of mitochondria leads to less energy generated in the cells. Cell failure, if repeated throughout the body, can lead to the failure of whole organ systems, and can cause accumulation of lactic acid.

Mitochondrial disease is difficult to diagnose because of the complex biochemistry and because of genetic differences between individuals. In the five patient cases reviewed for this article, the scientists saw patterns that led to looking closer at a specific genes and determining that mutations in those genes caused the lethal conditions. They also identified that increasing a nutritional compound would improve the function of the cells from these patients, identifying a new opportunity for treatment.

The project involved seven research centers worldwide. In addition to Colorado, scientists from Cambridge, United Kingdom; Nijmegen, the Netherlands; Madrid, Spain; Haifa, Israel; Groningen, the Netherlands; and Adelaide, Australia, were involved in the study.

The research conducted in Colorado was supported by a local patient organization, Miracles for Mito, and by a team of Courage Classic riders, Summits for Samantha. The Courage Classic is an annual bike ride/fundraiser sponsored by the Children's Hospital Colorado Foundation.
-end-
About the University of Colorado School of Medicine

Faculty at the University of Colorado School of Medicine work to advance science and improve care. These faculty members include physicians, educators and scientists at UCHealth University of Colorado Hospital, Children's Hospital Colorado, Denver Health, National Jewish Health, and the Veterans Affairs Eastern Colorado Health Care System. The school is located on the Anschutz Medical Campus, one of four campuses in the University of Colorado system.

University of Colorado Anschutz Medical Campus

Related Energy Articles:

Mandatory building energy audits alone do not overcome barriers to energy efficiency
A pioneering law may be insufficient to incentivize significant energy use reductions in residential and office buildings, a new study finds.
Scientists: Estonia has the most energy efficient new nearly zero energy buildings
A recent study carried out by an international group of building scientists showed that Estonia is among the countries with the most energy efficient buildings in Europe.
Mapping the energy transport mechanism of chalcogenide perovskite for solar energy use
Researchers from Lehigh University have, for the first time, revealed first-hand knowledge about the fundamental energy carrier properties of chalcogenide perovskite CaZrSe3, important for potential solar energy use.
Harvesting energy from walking human body Lightweight smart materials-based energy harvester develop
A research team led by Professor Wei-Hsin Liao from the Department of Mechanical and Automation Engineering, The Chinese University of Hong Kong (CUHK) has developed a lightweight smart materials-based energy harvester for scavenging energy from human motion, generating inexhaustible and sustainable power supply just from walking.
How much energy do we really need?
Two fundamental goals of humanity are to eradicate poverty and reduce climate change, and it is critical that the world knows whether achieving these goals will involve trade-offs.
New discipline proposed: Macro-energy systems -- the science of the energy transition
In a perspective published in Joule on Aug. 14, a group of researchers led by Stanford University propose a new academic discipline, 'macro-energy systems,' as the science of the energy transition.
How much energy storage costs must fall to reach renewable energy's full potential
The cost of energy storage will be critical in determining how much renewable energy can contribute to the decarbonization of electricity.
Energy from seawater
A new battery made from affordable and durable materials generates energy from places where salt and fresh waters mingle.
Shifts to renewable energy can drive up energy poverty, PSU study finds
Efforts to shift away from fossil fuels and replace oil and coal with renewable energy sources can help reduce carbon emissions but do so at the expense of increased inequality, according to a new Portland State University study
Putting that free energy around you to good use with minuscule energy harvesters
Scientists at Tokyo Tech developed a micro-electromechanical energy harvester that allows for more flexibility in design, which is crucial for future IoT applications.
More Energy News and Energy Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Teaching For Better Humans 2.0
More than test scores or good grades–what do kids need for the future? This hour, TED speakers explore how to help children grow into better humans, both during and after this time of crisis. Guests include educators Richard Culatta and Liz Kleinrock, psychologist Thomas Curran, and writer Jacqueline Woodson.
Now Playing: Science for the People

#556 The Power of Friendship
It's 2020 and times are tough. Maybe some of us are learning about social distancing the hard way. Maybe we just are all a little anxious. No matter what, we could probably use a friend. But what is a friend, exactly? And why do we need them so much? This week host Bethany Brookshire speaks with Lydia Denworth, author of the new book "Friendship: The Evolution, Biology, and Extraordinary Power of Life's Fundamental Bond". This episode is hosted by Bethany Brookshire, science writer from Science News.
Now Playing: Radiolab

Space
One of the most consistent questions we get at the show is from parents who want to know which episodes are kid-friendly and which aren't. So today, we're releasing a separate feed, Radiolab for Kids. To kick it off, we're rerunning an all-time favorite episode: Space. In the 60's, space exploration was an American obsession. This hour, we chart the path from romance to increasing cynicism. We begin with Ann Druyan, widow of Carl Sagan, with a story about the Voyager expedition, true love, and a golden record that travels through space. And astrophysicist Neil de Grasse Tyson explains the Coepernican Principle, and just how insignificant we are. Support Radiolab today at Radiolab.org/donate.