Science Current Events | Science News | Brightsurf.com
 

Bascom Palmer Eye Institute announces breakthrough for degenerative vision disorder

April 24, 2012
Miami - A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40. Genetic mutations in the mitochondria (part of the cell that produces energy) cause the disorder. Currently, there is no cure for LHON. However, Guy and his team have successfully modified a virus and used it to introduce healthy genes into the mitochondria to correct the genetic defect. Using experimental models, they have proven that it is both safe and effective to replace mutated genes with healthy ones and that doing so prevents deterioration of the retinal cells that form the optic nerve. This research demonstrates that when efficiently introduced into mitochondria, normal DNA can correct a biochemical defect in cellular energy production and restore visual function.

"A wide range of other factors, including aging, cancer, and Parkinson's disease, are also caused by mutations in the mitochondria," said Dr. Guy. "This new approach shows the vast potential for genetic-therapy applications, while helping to address a significant cause of blindness."

The healthy genes were delivered into the mitochondria via an innovative viral delivery system. Specifically, Guy redirected the adeno-associated virus (a small virus that infects humans but is not known to cause disease) to the mitochondria rather than to its typical target, the nucleus, where most genes are housed within the cell. He did so via a mitochondrial-targeting sequence (a peptide chain that directs the transport of a protein). This permitted the replacement of the defective mitochondrial gene with a healthy one, which then restored energy production to the affected ocular cells. Two National Institutes of Health/National Eye Institute grants, totaling $6.1 million funded this research, which began in 2007.

"Other research studies have shown that LHON patients who have lost their vision still have some sensitivity to light," said Guy. "This indicated that if you can restore the functioning of those cells through gene therapy, those patients could see again." In conjunction with his research, Guy explored why only about 50 percent of patients with the genetic mutation develop LHON, while others do not.

Known for exploring gene therapy as a potential treatment for diseases of the optic nerve, Guy holds several patents related to mitochondrial gene therapy biotechnology. His next steps will be to investigate incorporating all three genes that cause LHON into a single viral carrier and hopefully receive FDA approval to inject therapeutic genes into patients who have visual loss from mitochondrial disease.

On April 20, 2012, Proceedings of the National Academy of Sciences of the United States of America (PNAS) - one of the world's most-cited multidisciplinary scientific serials - published an article by Guy about this recent breakthrough. Click here to read the article.


Bascom Palmer Eye Institute


Related Mitochondria Current Events and Mitochondria News Articles


Dual role: Key cell division proteins also power up mitochondria
An international team led by researchers at UC Davis has shown that the cyclin B1/Cdk1 protein complex, which plays a key role in cell division, also boosts the mitochondrial activity to power that process.

Live cell imaging reveals distinct alterations of subcellular glutathione potentials
In the April issue of Experimental Biology and Medicine a multidisciplinary research team led by Drs. Rex Gaskins and Paul Kenis in the Institute of Genomic Biology (IGB) on the campus of the University of Illinois Urbana-Champaign describe their recent work on subcellular redox homeostasis.

Breaking bad mitochondria
Researchers at the University of California, San Diego School of Medicine have identified a mechanism that explains why people with the hepatitis C virus get liver disease and why the virus is able to persist in the body for so long.

BU researchers identify specific causes of brown fat cell 'whitening'
Boston University researchers have learned new information about the consequences of overeating high-calorie foods.

Zombie cancer cells eat themselves to live
A University of Colorado Cancer Center study recently published in the journal Cell Reports and presented today at the American Association for Cancer Research (AACR) Annual Conference 2014 shows that the cellular process of autophagy in which cells "eat" parts of themselves in times of stress may allow cancer cells to recover and divide rather than die when faced with chemotherapies.

Friedreich's ataxia -- an effective gene therapy in an animal model
The transfer, via a viral vector, of a normal copy of the gene deficient in patients, allowed to fully and very rapidly cure the heart disease in mice.

Combining cell replication blocker with common cancer drug kills resistant tumor cells
Researchers from the University of Pittsburgh Cancer Institute (UPCI), a partner with UPMC CancerCenter, have found that an agent that inhibits mitochondrial division can overcome tumor cell resistance to a commonly used cancer drug, and that the combination of the two induces rapid and synergistic cell death.

Fruitfly study: Epilepsy drug target implications for sleep disruption in brain disorders
A new study in a mutant fruitfly called sleepless (sss) confirmed that the enzyme GABA transaminase, which is the target of some epilepsy drugs, contributes to sleep loss.

p53 cuts off invading cancer cells
The tumor suppressor p53 does all it can to prevent oncogenes from transforming normal cells into tumor cells by killing defective cells or causing them to become inactive.

Proteins that control energy use necessary to form stem cells
Two proteins that control how cells break down glucose play a key role in forming human stem cells, University of Washington researchers have found. The finding has implications for future work in both regenerative medicine and cancer therapy.
More Mitochondria Current Events and Mitochondria News Articles

The Secret Life of Mitochondria

The Secret Life of Mitochondria
by Smashwords, Inc.


As we age, it becomes easier to gain weight and harder to maintain muscle. Thus, our waistlines tend to fatten, our muscles weaken, and the physical tasks that once seemed trivial now seem tiring. The deterioration of mitochondria, the microscopic power plants within every cell responsible for converting food into biochemical fuel, has been implicated as a major cause of these changes. The loss of mitochondrial efficiency and number over time deprives us of living a longer, healthier life. It may come as no surprise to learn that mitochondrial biogenesis, the natural process in which your cells build new mitochondria, may hold the key to delaying the deterioration in your body’s appearance, performance, and even aging. The Secret Life of Mitochondria seeks to explain the role of...

Minding My Mitochondria 2nd Edition: How I overcame secondary progressive  multiple sclerosis (MS) and got out of my  wheelchair.

Minding My Mitochondria 2nd Edition: How I overcame secondary progressive multiple sclerosis (MS) and got out of my wheelchair.
by Terry L. Wahls (Author), Tom Nelson (Illustrator)


Dr. Terry Wahls links micronutrient starvation to the epidemics of chronic disease that are overtaking modern society. She explains the key roles mitochondria play in maintaining a healthy brain and body. Americans are eating so poorly, something we all know to be true, that the majority of Americans are missing key building blocks that are needed for brain cells to be healthy. The result is an epidemic of depression, aggression, multiple sclerosis and early dementia. She then teaches you how to eat for healthy mitochondria, a healthy brain and a healthy body in language that is clear and concise, even for those without a science background. In this book, Dr. Wahls explains basic brain biology in simple terms. She tells us what vitamin, mineral and essential fat building blocks are...

The Machinery of Life

The Machinery of Life
by David S. Goodsell (Author)


The Machinery of Life is a journey into the sub-microscopic world of molecular machines. Readers are introduced to the types of molecules built by cells, including proteins, nucleic acids, lipids, and polysaccharides; then, in a series of full-color "watercolor" illustrations, which show a portion of a living cell magnified by 1,000,000 times, the reader is guided through the interior world of cells. The book explores the ways in which molecules work in concert to perform the processes of living, and how vitamins, viruses, poisons, and drugs each have their effects on the molecules in our bodies. The book is a fascinating introduction to biochemistry for the non-specialist, and combines a lucid text with an abundance of drawings and computer graphics that present the world of cells and...

The Wahls Protocol: How I Beat Progressive MS Using Paleo Principles and Functional Medicine

The Wahls Protocol: How I Beat Progressive MS Using Paleo Principles and Functional Medicine
by Terry Wahls M.D. (Author), Eve Adamson (Author)


An integrative approach to healing chronic autoimmune conditions by a doctor, researcher, and sufferer of progressive multiple sclerosis (MS) whose TEDx talk is already a web sensation
 
Like many physicians, Dr. Terry Wahls focused on treating her patients’ ailments with drugs or surgical procedures—until she was diagnosed with multiple sclerosis (MS) in 2000. Within three years, her back and stomach muscles had weakened to the point where she needed a tilt-recline wheelchair. Conventional medical treatments were failing her, and she feared that she would be bedridden for the rest of her life.
 
Dr. Wahls began studying the latest research on autoimmune disease and brain biology, and decided to get her vitamins, minerals, antioxidants, and essential fatty...

Mitochondria: The Dynamic Organelle (Advances in Biochemistry in Health and Disease)

Mitochondria: The Dynamic Organelle (Advances in Biochemistry in Health and Disease)
by Stephen W. Schaffer (Editor), M. Saadeh Suleiman (Editor)


This book is indispensable to researchers in fields as diverse as Molecular Biology and Biophysics. It covers the important role that mitochondria play in a variety of biochemical spheres. It analyses how mitochondria affect metabolic pathways, how they are active in the regulation of cytosolic constituents, and their role in initiating signal pathways. Also covered are the way mitochondria help to regulate apoptosis, and how they modulate cellular hypertrophy and proliferation. It gives an overview of the emergence of mitochondria as an important regulator of cell signaling, with a particular focus on their pathophysiology.

Mitochondria

Mitochondria
by Immo E. Scheffler (Author)


"This volume inspires. It certainly will be much appreciated by cell biologists all over the world."
Quarterly Review of Biology, March 2009This book is the eagerly awaited second edition of the best-selling Mitochondria, a book widely acknowledged as the first modern, truly comprehensive authored work on the important, scientifically fundamental topic of the cellular organelles known as mitochondria.This new edition brings readers completely up to date on the many significant findings that have occurred in the eight years since the book was first published. As in that seminal first edition, the second edition tackles the biochemistry, genetics, and pathology of mitochondria in different organisms. The new edition provides thorough updates of all literature concerning this vital...

Diagnosing and treating Chronic Fatigue Syndrome: its mitochondria, not hypochondria

Diagnosing and treating Chronic Fatigue Syndrome: its mitochondria, not hypochondria
by Sarah Myhill (Author)


We have around 3000 mitochondria in each and every cell in our bodies. They are the powerhouses of our cells, essential for the production and management of energy at cell level. Dr Sarah Myhill, together with Dr John McLaren Howard of Acumen Laboratories and Dr Norman Booth of Mansfield College Oxford, has spent many years studying the relationship between their malfunction and the commonest problem seen by GPs in the UK - fatigue. Their research findings have been published in three scientific papers in the International Journal of Clinical and Experimental Medicine, in 2009, 2012 and 2013. These studies showed that poor functioning of the mitochondria is the central problem in CFS. Patients with the worst mitochondrial function had the worst fatigue and vice versa. This is solid...

Mitochondria: Structure, Functions and Dysfunctions (Cell Biology Research Progress)

Mitochondria: Structure, Functions and Dysfunctions (Cell Biology Research Progress)
by Oliver L. Svensson (Author), Oliver L. Svensson (Editor)


In cell biology, a mitochondrion is a membrane-enclosed organelle found in most eukaryotic cells. Mitochondria are often described as 'cellular power plants' because they generate most of the cell's supply of adenosine triphosphate (ATP), used as a source of the chemical energy. In addition to supplying cellular energy, mitochondria are involved in a range of other processes, such as signalling, cellular differentiation, cell death, as well as the control of the cell cycle and cell growth. This book reviews research on the mitochondrial metabolism in age-related neurodegenerative disorders such as Alzheimer's and Parkinson's disease; mitochondria and ageing; apoptosis and peritoneal injury; and, diabetes, mitochondria and brain endothelium dysfunction as a dangerous triad for...

Mitochondria: Practical Protocols (Methods in Molecular Biology)

Mitochondria: Practical Protocols (Methods in Molecular Biology)
by Dario Leister (Editor), Johannes M. Herrmann (Editor)


This book offers a broad collection of methods for studying the molecular biology, function, and features of mitochondria. In the past decade, mitochondrial research has elucidated the important influence of mitochondrial processes on integral cell processes. This practical guide presents a wide spectrum of mitochondrial methods, each written by specialists with solid experience and intended for implementation by novice and expert researchers alike.

© 2014 BrightSurf.com