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


Research may explain how foremost anticancer 'guardian' protein learned to switch sides
Researchers at Cold Spring Harbor Laboratory (CSHL) have discovered a new function of the body's most important tumor-suppressing protein. Called p53, this protein has been called "the guardian of the genome."

Brazilian researchers identify RNA that regulates cell death
Researchers from the University of São Paulo (USP) have identified an RNA known as INXS that, although containing no instructions for the production of a protein, modulates the action of an important gene in the process of apoptosis, or programmed cell death.

Four billion-year-old chemistry in cells today
Parts of the primordial soup in which life arose have been maintained in our cells today according to scientists at the University of East Anglia.

A world first: Researchers identify a treatment that prevents tumor metastasis
Metastasis, the strategy adopted by tumor cells to transform into an aggressive form of cancer, are often associated with a gloomy prognosis.

Brain-On-A-Chip Axonal Strain Injury Model Highlights Mitochondrial Membrane Potential Threshold and Assesses Potential New Therapeutic
Researchers from the Biomedical Engineering Department of Rutgers, The State University of New Jersey recently demonstrated the use of their "Brain-on-a-Chip" microsystem to assess specific effects of traumatic axonal injury.

Rotten egg gas holds key to healthcare therapies
It may smell of flatulence and have a reputation for being highly toxic, but when used in the right tiny dosage, hydrogen sulfide is now being being found to offer potential health benefits in a range of issues, from diabetes to stroke, heart attacks and dementia.

Bacteria Hijack Plentiful Iron Supply Source to Flourish
In an era of increasing concern about the prevalence of antibiotic-resistant illness, Case Western Reserve researchers have identified a promising new pathway to disabling disease: blocking bacteria's access to iron in the body.

How antioxidants can accelerate cancers, and why they don't protect against them
For decades, health-conscious people around the globe have taken antioxidant supplements and eaten foods rich in antioxidants, figuring this was one of the paths to good health and a long life.

UGA researchers use nanoparticles to enhance chemotherapy
University of Georgia researchers have developed a new formulation of cisplatin, a common chemotherapy drug, that significantly increases the drug's ability to target and destroy cancerous cells.

Artificial enzyme mimics the natural detoxification mechanism in liver cells
Scientists at Johannes Gutenberg University Mainz (JGU) have discovered that molybdenum trioxide nanoparticles oxidize sulfite to sulfate in liver cells in analogy to the enzyme sulfite oxidase.
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...

Mitochondria (Cold Spring Harbor Perspectives in Biology)

Mitochondria (Cold Spring Harbor Perspectives in Biology)
by Douglas C. Wallace (Author), Richard J. Youle (Author)


Mitochondria are subcellular organelles that function as "power plants¨for the cell, generating energy in the form of ATP from glucose, oxygen, and other molecules. Thought to have arisen about 2 billion years ago when an aerobic bacterium invaded the primitive eukaryotic cell, they have their own DNA, undergo fission and fusion independently, and play an important role in programmed cell death.

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Biology discusses the evolution of mitochondria, their functions in cells, and the numerous diseases in which mitochondrial dysfunction is implicated. The contributors also examine mitochondrial biogenesis, the molecular mechanisms underlying fission and fusion, how proteins are imported...

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...

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...

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...

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...

The Machinery of Life

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


Imagine that we had some way to look directly at the molecules in a living organism. An x-ray microscope would do the trick, or since we’re dreaming, perhaps an Asimov-style nanosubmarine (unfortunately, neither is currently feasible). Think of the wonders we could witness firsthand: antibodies atta- ing a virus, electrical signals racing down nerve fibers, proteins building new strands of DNA. Many of the questions puzzling the current cadre of sci- tists would be answered at a glance. But the nanoscale world of molecules is separated from our everyday world of experience by a daunting million-fold difference in size, so the world of molecules is completely invisible. I created the illustrations in this book to help bridge this gulf and allow us to see the molecular structure of cells,...

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.

Living Well With Mitochondrial Disease: A Handbook for Patients, Parents, and Families

Living Well With Mitochondrial Disease: A Handbook for Patients, Parents, and Families
by Cristy Balcells (Author)


LIVING WELL WITH MITOCHONDRIAL DISEASE helps make sense of mitochondrial disease (Mito), an overwhelming and complex group of diagnoses that has grown exponentially in recent years. The most common of all metabolic disorders, thought to be more common than cystic fibrosis and broader-reaching than most genetic diseases, Mito can affect babies, children, and teens from birth or at any point during their development. Previously healthy adults, as well as adults with a history of unexplained fatigue, are increasingly receiving a Mito diagnosis. Some children with autism spectrum disorders who have medical issues such as digestive difficulties and fatigue are also being identified as having a mitochondrial disorder. This guide is the first book about Mito written for patients and their...

© 2014 BrightSurf.com