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Latest Human mitochondrial genetics Stories

2014-08-18 16:27:41

Registry could impact development of treatments and potential cures. PITTSBURGH, Aug. 18, 2014 /PRNewswire-USNewswire/ -- The United Mitochondrial Disease Foundation (UMDF) has announced the creation and launch of the Mitochondrial Disease Community Registry (MDCR). The registry, to be populated by patients, caregivers and family members, is the first of its kind that gathers information about mitochondrial disease to be shared as a tool to impact the development of diagnostic tools,...

Muscle Weakness In Alcoholics And Mitochondrial Disease Patients
2014-04-22 07:25:33

April Flowers for redOrbit.com - Your Universe Online Long-time alcoholics and patients with mitochondrial disease both suffer with muscle weakness, but it wasn't until a new study from Thomas Jefferson University that a common link was found. According to the findings, described in The Journal of Cell Biology, the link involves mitochondria that are unable to self-repair. This information gives researchers a new method for diagnosing mitochondrial disease, as well as a target for new drug...

2014-03-28 09:10:41

Mitochondria, long known as "cellular power plants" for their generation of the key energy source adenosine triphosphate (ATP), are essential for proper cellular functions. Mitochondrial defects are often observed in a variety of diseases, including cancer, Alzheimer's disease, and Parkinson's disease, and are the hallmarks of a number of genetic mitochondrial disorders whose manifestations range from muscle weakness to organ failure. Despite a fairly strong understanding of the pathology of...

2013-12-18 13:34:23

A new gene mutation which will help doctors give a more accurate diagnosis of a particular type of brain and muscle disease in children has been discovered for the first time by University of Leeds experts. Mitochondrial myopathy, as it is known, causes muscle weakness, movement problems and learning difficulties and affects more than 70,000 people in the UK. For the first time, mutations in a particular gene, MICU1, have been linked to myopathy. The discovery gives a better...

New Genetic Advances Ties Living Natives To Ancient Remains
2013-07-04 09:26:03

Brett Smith for redOrbit.com - Your Universe Online When Europeans began to colonize the Americas, male settlers sporadically began having children with native females. This mixing of bloodlines would have made tracing today's native ancestries difficult several years ago, but new advances in the sequencing of mitochondrial DNA have allowed researchers to draw a direct line between someone living today and Native American remains thousands of years old. According to a new report in...

Researchers Discover Key Protein In Development Of Parkinson's Disease
2013-04-26 12:17:29

Brett Smith for redOrbit.com - Your Universe Online By working with mouse and fruit fly hearts, researchers at Washington University (WUSTL) School of Medicine, St. Louis identified a key protein that has a connection with Parkinson´s disease and heart failure. According to a new report in the journal Science, a protein known as mitofusin 2 (Mfn2) is the missing link in the chain-reaction that starts with mitochondrial dysfunction and ends with Parkinson´s disease or heart...

2012-06-08 09:44:49

In exploring the genetics of mitochondria — the powerhouse of the cell — researchers at Fred Hutchinson Cancer Research Center have stumbled upon a finding that challenges previously held beliefs about the role of mutations in cancer development. For the first time, researchers have found that the number of new mutations are significantly lower in cancers than in normal cells. "This is completely opposite of what we see in nuclear DNA, which has an increased overall mutation...

2012-05-03 19:23:40

Study also highlights shortcomings of current genetic testing methods to prevent certain genetic disorders Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited. The research specifically focused on gene mutations in cell mitochondria that can cause several diseases, including forms of cancer, diabetes, infertility and...

2012-03-12 15:02:25

Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial DNA by targeting corrective RNAs, a finding with implications for treating a host of mitochondrial diseases. Mutations in the human mitochondrial genome are implicated in neuromuscular diseases, metabolic defects and aging. There currently are no methods to successfully...


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malpais
  • The ragged surface of a lava-flow.
'Malpais' translates from Spanish as 'bad land.'