Mitochondrial Disease News and Research

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Scientists discover molecular pathway by which maternally inherited deafness appears to occur

Yale scientists have discovered the molecular pathway by which maternally inherited deafness appears to occur: Mitochondrial DNA mutations trigger a signaling cascade, resulting in programmed cell death.

17 Feb 2012

DNA sequencing for difficult diagnoses of mitochondrial diseases may hit clinics soon

Identifying complete DNA sequences could identify difficult-to-diagnose diseases in humans. This concept is being used for the first time in a clinic. MitoExome sequencing uses new technologies known as next-generation sequencing (NGS) to decode all of the genes associated with mitochondria. Mitochondria are a capsule shaped organelle present within the cell. It is the powerhouse of the cell and its genes are inherited completely from the mother.

29 Jan 2012

Three-parent children may be born in near future in an effort to combat mitochondrial diseases

In the next couple of years the scientific community may witness creation of children with genetic material from three parents. British scientists want to start testing a new IVF technique to try to eradicate incurable genetic diseases such as muscular dystrophy. The concept took a leap forward yesterday after the Government announced a public consultation on whether the law should be changed to allow the technique.

22 Jan 2012

Mitochondrial dysfunction in tissue stem cells can cause aging-associated degeneration

Aging-related tissue degeneration can be caused by mitochondrial dysfunction in tissue stem cells. The research group of Professor Anu Suomalainen Wartiovaara at the University of Helsinki, with their collaborators in Max Planck Institute for Biology of Aging, Karolinska Institutet and University of Wisconsin, reported on the 3rd January in Cell Metabolism their results on mechanisms of aging-associated degeneration.

4 Jan 2012

Researchers discover new genetic defect that can lead to Leigh syndrome

In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains.

7 Sep 2011

Transgenomic introduces Nuclear Mitome Test for diagnosis of mitochondrial disorders

Transgenomic, Inc. today announced the launch of the Nuclear Mitome Test, a genetic test to aid physicians in the diagnosis of mitochondrial disorders.

17 Jun 2011

Preliminary results from Edison's EPI-A0001 28-day phase 2A trial against Friedreich's ataxia

Edison Pharmaceuticals, Inc. announced today preliminary results obtained on a 28-day phase 2A clinical trial in Friedreich's ataxia. While the primary endpoint of glucose disposition index did not show statistically significant improvement, EPI-A0001 did significantly improve neurological function as assessed by the Friedreich's Ataxia Rating Scale.

10 Jun 2011

FDA grants orphan drug designation for Edison's EPI-743 to treat inherited mitochondrial diseases

Edison Pharmaceuticals, Inc. announced today the United States Food and Drug Administration has granted orphan drug designation to EPI-743 for treatment of inherited mitochondrial respiratory chain diseases.

8 Jun 2011

Cholesterol drug may help treat mitochondrial diseases

A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses.

20 May 2011

Scientists perform surgery on single cell to extract and examine mitochondria

Medical researchers who crave a means of exploring the genetic culprits behind a host of neuromuscular disorders may have just had their wish granted by a team working at the National Institute of Standards and Technology, where scientists have performed surgery on single cells to extract and examine their mitochondria.

7 Jan 2011

Prominent scientist in mitochondrial genetics joins Children's Hospital to establish CMEM

Douglas C. Wallace, Ph.D., a pioneer and internationally prominent scientist in the field of human mitochondrial genetics, has joined The Children's Hospital of Philadelphia to continue his investigations into the role of mitochondrial energy in health and disease.

29 Oct 2010

Knopp Neurosciences forms new parent entity

Knopp Neurosciences Inc. announced today that it has formed a new parent entity called Knopp Biosciences LLC to expand operations with the goal of becoming a more broadly integrated biopharmaceutical company.

15 Oct 2010

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks, the world's largest autism science and advocacy organization has released its annual list of the 10 most significant research achievements to have impacted autism during the previous year. Every year, Autism Speaks documents the progress made toward its mission to discover the causes and treatment for autism spectrum disorders, and compiles a list of the 10 most significant research achievements to have impacted autism during the previous year.

10 Feb 2010

Children's Wish Foundation facilitates 12-year-old with genetic mitochondrial disease play international hockey

Gregory Herbert is a 12-year-old boy. He fell ill suddenly at the age of 10. Several organs were attacked, including his eyes, brain, kidneys and heart, by a genetic mitochondrial disease that is rather unknown to doctors. Thanks to the Children's Wish Foundation, Gregory will experience his fondest wish and participate in the Quebec International Pee-Wee Hockey Tournament this February!

29 Jan 2010

Researchers study about abnormal gene functioning in mitochondria

Researchers are delving into abnormal gene function in mitochondria, structures within cells that power our lives. Mitochondria are the place where energy is generated from the most basic molecules of food. Because this function is essential to life, defects in mitochondria may affect a wide range of organ systems in humans and animals.

25 Sep 2009

Study on mitochondria function

For such crucial biological actors, much remains unknown about exactly how mitochondria function. A new study, published Aug. 12 in the online journal PLoS One, sheds light on mitochondrial biology. Using genetic engineering, researchers interrupted the activity of individual genes directly involved in the production of energy within mitochondria. "If we knock down the function of specific system components, what happens?" said study leader Marni J. Falk, M.D., who directs the Mitochondrial-Genetics Disease Clinic at The Children's Hospital of Philadelphia. "Our ultimate goal is to translate the knowledge into targeted therapies, that is, effective ways to intervene. But first we need to understand the underlying disease mechanisms."

25 Sep 2009

Discovery of a genetic mutation underlying late-onset Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system.

11 Aug 2009