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


More power to the mitochondria: Cells' energy plant also plays key role in stem cell development
Researchers at NYU Langone Medical Center have discovered that mitochondria, the major energy source for most cells, also play an important role in stem cell development -- a purpose notably distinct from the tiny organelle's traditional job as the cell's main source of the adenosine triphosphate (ATP) energy needed for routine cell metabolism.

Beyond genes: Are centrioles carriers of biological information?
Centrioles are barrel-shaped structures inside cells, made up of multiple proteins.

Study sheds new light on brain's source of power
New research published today in the journal Nature Communications represents a potentially fundamental shift in our understanding of how nerve cells in the brain generate the energy needed to function.

Restoring cellular energy signals may treat mitochondrial diseases in humans
Rooted in malfunctions in the tiny power plants that energize our cells, mitochondrial disorders are notoriously complex and variable, with few effective treatments. Now, novel findings in microscopic worms may hold great promise for children and adults with mitochondrial disorders.

Ancient herbal therapy can prevent -- and reverse -- cardiac hypertrophy in mice
A natural compound derived from the bark of the magnolia tree, can protect the heart from hypertrophy, a thickening of cardiac muscle often caused by chronic high blood pressure that can lead to heart failure, researchers report in the April 14 issue of the online journal Nature Communications.

Mapping energy metabolism of growing nerve cells to better understand neuronal disorders
Scientists from Kyoto University's Institute for Integrated Cell-Material Sciences (iCeMS) in Japan have have discovered how nerve cells adjust to low energy environments during the brain's growth process.

UCLA researchers deliver large particles into cells at high speed
A new device developed by UCLA engineers and doctors eventually help scientists study the development of disease, enable them to capture improved images of the inside of cells and lead to other improvements in medical and biological research.

Into thin air and back
Life has adapted to all sorts of extreme environments on Earth, among them, animals like the deer mouse, shimmying and shivering about, and having to squeeze enough energy from the cold, thin air to fuel their bodies and survive.

Defect found in pancreatic cells could lead to new diabetes treatment
A cellular defect that can impair the body's ability to handle high glucose levels and could point the way to a potential new treatment for diabetes has been identified by Columbia University Medical Center (CUMC) researchers.

Enriched broccoli reduces cholesterol
Including a new broccoli variety in the diet reduces blood LDL-cholesterol levels by around 6%, according to the results of human trials led by the Institute of Food Research.
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

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...

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...

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 unconnected...

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 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...

Mitochondrial Nutrition for Optimal Health and Performance: The Streamlined Digital Companion excerpted from Dr Vasquez's Textbooks

Mitochondrial Nutrition for Optimal Health and Performance: The Streamlined Digital Companion excerpted from Dr Vasquez's Textbooks
by International College of Human Nutrition and Functional Medicine ICHNFM.ORG


This is more than a simple ebook: DrV's "Mitochondrial Nutrition for Optimal Health and Performance" provides information within an overall context, links to videos (including more than 8 hours of Dr Vasquez's seminar presentations and instructional tutorials), links to full-text articles, and a complete mitochondrial protocol, including doses commonly used by doctors when treating adult patients. This "Streamlined Digital Companion" provides easy access to the dysmetabolism component (including mitochondrial dysfunction and endoplasmic reticulum stress) as contextualized within the full clinical protocol published in Inflammation Mastery (discounted black/white printing) and Functional Inflammology (full-color printing); the associated presentation slides are included in the book...

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...

Mitochondria: the cell powerhouse and nexus of stress

Mitochondria: the cell powerhouse and nexus of stress


Mitochondrion, a sub-cellular organelle originated from primary endosymbiosis, plays a vital role in energy metabolism of eukaryotic cells. The transfer of electrons through the electron transport chain (ETC) to molecular oxygen accompanied by the extrusion of protons from the matrix generate an electrochemical gradient across the inner mitochondrial membrane (IMM) that is used for ATP synthesis by oxidative phosphorylation. Despite many aspects of ATP synthesis have been delineated, regulatory mechanisms responsible for energy synthesis and transfer still remain to be uncovered. In addition to energy function, mitochondria play a crucial role in cell metabolism under both physiological and pathological conditions through their participation in many intracellular signaling pathways....

© 2015 BrightSurf.com