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


Technique could help identify patients who would suffer chemo-induced heart damage
Cancer patients who receive a particular type of chemotherapy called doxorubicin run a risk of sustaining severe, lasting heart damage. But it is not possible to predict who is likely to experience this serious side effect. It is also unknown exactly how the drug damages heart muscle.

Chemical tracers reveal oxygen-dependent switch in cellular pathway to fat
Using tracer compounds, scientists have been able to track the cellular production of NADPH, a key coenzyme for making fat, through a pathway that has never been measured directly before.

New effects of ketamine abuse uncovered
Research conducted by scientists at the University of York has revealed how recreational ketamine abuse damages the bladder.

Glucose-guzzling immune cells may drive coronary artery disease, Stanford study finds
Hyper-aggressive immune cells parked in arterial plaque and bingeing on glucose appear to be major drivers of coronary artery disease, Stanford University School of Medicine investigators have found.

Heart failure is associated with increased acetylation of metabolic proteins
In cardiac hypertrophy, metabolic energy reserves in the heart are depleted, which is thought to contribute to the subsequent development of heart failure.

Scientists make significant anti-aging breakthrough
A breakthrough in understanding human skin cells offers a pathway for new anti-ageing treatments.

What will emerging genetic tools for mitochondrial DNA replacement mean for patients?
Sophisticated prenatal techniques, not yet in clinical practice, offer the potential to prevent a cruel multi-system genetic disease passing from mother to child long before birth.

Why do we still have mitochondrial DNA?
The mitochondrion isn't the bacterium it was in its prime, say two billion years ago.

Clinical investigations of MRT are 'ethically permissible' if conditions met
Conducting clinical investigations of mitochondrial replacement techniques (MRT) in humans is ethically permissible as long as significant conditions and principles are met, says a new report from the National Academies of Sciences, Engineering, and Medicine.

On the origin of Eukaryotes -- when cells got complex
Just as physicists comprehend the origin of the universe by observing the stars and archeologists reconstruct ancient civilizations with the artifacts found today, evolutionary biologists study the diversity of modern-day species to understand the origin of life and evolution.
More Mitochondria Current Events and Mitochondria News Articles

Life - The Epic Story of Our Mitochondria: How the Original Probiotic Dictates Your Health, Illness, Ageing, and Even Life Itself

Life - The Epic Story of Our Mitochondria: How the Original Probiotic Dictates Your Health, Illness, Ageing, and Even Life Itself
by Lee Know Nd (Author)


Why do we age? Why does cancer develop? What's the connection between heart failure and Alzheimer's disease, or infertility and hearing loss? Can we extend lifespan, and if so, how? What is the Exercise Paradox? Why do antioxidant supplements sometimes do more harm than good? Many will be amazed to learn that all these questions, and many more, can be answered by a single point of discussion-mitochondria and bioenergetics. This legendary saga began over two billion years ago, when one bacterium entered another without being digested, ultimately creating the first mitochondrion. Since then, for life to exist beyond single-celled bacteria, it's the mitochondria that are responsible for this life-giving energy. Yet, current research has also revealed a dark side; many seemingly...

Mighty Mito: Power Up Your Mitochondria for Boundless Energy, Laser Sharp Mental Focus and a Powerful Vibrant Body

Mighty Mito: Power Up Your Mitochondria for Boundless Energy, Laser Sharp Mental Focus and a Powerful Vibrant Body
by Wellness For Life Press


Ever wonder why toddlers and preschoolers run around with endless energy, and you’re ready to fall asleep just watching them? Finally, Dr. Susanne Bennett, DC, CCSP, has the answer! And it all has to do with the mighty mitochondria—that subcellular organelle that is responsible for your body’s energy production.

Through Mighty Mito, Dr. Susanne explains why we lose energy as we get older and how each one of us can regain that energy by providing what our mitochondria thrive on. Healthy mitochondria equal better energy production in our cells. Better energy production equals more energy—and you’ll feel years, or even decades, younger. Mighty Mito contains step-by-step instructions on what mitochondria need to be healthy, including diet, exercise, and your...

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 2009 This 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: A Radical New Way to Treat All Chronic Autoimmune Conditions Using Paleo Principles

The Wahls Protocol: A Radical New Way to Treat All Chronic Autoimmune Conditions Using Paleo Principles
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 acids from the...

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...

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 (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...

The Vital Question: Energy, Evolution, and the Origins of Complex Life

The Vital Question: Energy, Evolution, and the Origins of Complex Life
by Nick Lane (Author)


To explain the mystery of how life evolved on Earth, Nick Lane explores the deep link between energy and genes.The Earth teems with life: in its oceans, forests, skies and cities. Yet there’s a black hole at the heart of biology. We do not know why complex life is the way it is, or, for that matter, how life first began. In The Vital Question, award-winning author and biochemist Nick Lane radically reframes evolutionary history, putting forward a solution to conundrums that have puzzled generations of scientists.For two and a half billion years, from the very origins of life, single-celled organisms such as bacteria evolved without changing their basic form. Then, on just one occasion in four billion years, they made the jump to complexity. All complex life, from mushrooms to man,...

© 2016 BrightSurf.com