Mitochondrial Disease
While finding a cure is a long range goal, we can't spend a lifetime waiting for it - MitoAction
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Mito What? Mitochondrial Disease and Its Impact, One Families Story
Mitochondrial disease is a life-threatening metabolic disorder that affects the body’s ability to convert food into energy. The mitochondria are a separate strand of DNA, which exist in every cell except red blood cells, and are responsible for producing 90% of the body’s energy. Individuals with mitochondrial disease can suffer devastating effects from a simple cold or flu, even death.
I can quote the above paragraph in my sleep. I don’t even have to look up the spelling of “mitochondria” anymore. My adorable twin daughters, Julia & Maya, were diagnosed with mitochondrial encephalomyopathy on April 23rd, 2009, shortly after their 4th birthday. I have become a different person since…
Resources
Gene-editing discovery could point the way toward a ‘holy grail’: cures for mitochondrial diseases
If one of their 37 genes is aberrant, mitochondria can’t perform, resulting in any of hundreds of mitochondrial diseases. The most devastating, including “mitochondrial DNA depletion syndrome” (MDDS), destroy children’s muscles and brains, and eventually take their lives.
Her Son Is One Of The Few Children To Have 3 Parents' DNA
The idea is that something in the egg from the other woman might make the difference. That something could be a tiny bit of genetic material known as mitochondrial DNA. These 37 genes provide the blueprint for mitochondria, the powerhouses inside cells that provide energy for the egg and embryo.
Beyond three-parent babies: New drugs offer hope for mitochondrial disease
Women with mitochondrial disease could soon have a way to avoid passing their harmful genetic mutations on to their children, after the US Institute of Medicine — the country’s premier medical advisory group — last week endorsed an experimental technique to create embryos with DNA from three parents. But while that might help the next generation, it doesn’t offer a remedy for the 30,000 or so Americans living with inherited defects in their mitochondria, which are often called the power plants of the cell because they fuel the body’s energy needs.
Birth of Baby With Three Parents’ DNA Marks Success for Banned Technique
The technique that led to the healthy birth was to move the DNA from an egg of the mother, who had mutated mitochondria, and place it in the egg of a healthy egg donor — after first removing the healthy donor’s nuclear DNA from her egg cell. Then that egg, with its healthy mitochondria and the mother’s DNA, could be fertilized.
How Can Mutations In Mitochondrial DNA Affect The Human Body?
Mitochondrial mutations can cause several syndromes (groups of symptoms), which may be distinct or overlap. Symptoms in a syndrome tend to co-occur, but most individuals will not experience all symptoms associated with the syndrome. In addition, symptoms can vary dramatically from one individual to another, even with the same mutation.
Journeys with mitochondrial disease
It’s a new world, and those of us who have rare disorders are able to connect with and advise each other like never before.
Mitochondria mutation mystery solved: Random sorting helps get rid of duds
You probably know about the 23 pairs of chromosomes safely stowed in your cells’ nuclei. That’s where the vast majority of your genes can be found. But there are 37 special genes — a very tiny fraction of the human genome — located in mitochondria, the structures inside your cells that breathe and produce energy.
Mitochondrial Disease Research Makes Progress
In experiments, researchers used cloning and cell reprogramming to make fresh tissue that was a genetic match for patients.
Mitochondrial disorders in children: toward development of small‐molecule treatment strategies
This review presents our current understanding of the pathophysiology and potential treatment strategies with respect to mitochondrial disease in children. We focus on pathologies due to mutations in nuclear DNA‐encoded structural and assembly factors of the mitochondrial oxidative phosphorylation (OXPHOS) system, with a particular emphasis on isolated mitochondrial complex I deficiency.
Mitochondrial disorders: Challenges in diagnosis & treatment
Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders.
Mitochondrial DNA in Aging and Disease
Defects in DNA outside the chromosomes--in cell structures called mitochondria--can cause an array of disorders, perhaps including many that debilitate the elderly.
The Brave New World of Three-Parent I.V.F.
Mitochondrial DNA wasn’t discovered until the 1960s, and it wasn’t until 1988 that two high-profile papers, published by groups at the Institute of Neurology in London and Emory University School of Medicine, revealed that mutations in mtDNA can cause disease.
The Disease You’ve Probably Never Heard Of
To describe Mitochondrial disease many within the community use this analogy to describe what it is like for someone who lives with this disease: Imagine taking out a car battery and replacing it with two double AA batteries.
The Unifying Theory of Mitochondrial Dysfunction
There is a steadily growing body of evidence linking many adult-onset diseases, including fibromyalgia, Chronic Fatigue Syndrome, Alzheimer’s disease, autoimmune diseases, and even diabetes, to a single common cause, referred to as "Mitochondrial Dysfunction".
To Get Rid Of Mitochondrial Diseases, Just Edit Them Out Of DNA
A possible alternative to controversial three-parent babies.
Understanding mitochondrial myopathies: a review
Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are likely to be in the mitochondrial DNA (mtDNA), or possibly in the nuclear DNA (nDNA). The goal of this review is to assess the current understanding of mitochondrial diseases.
Unexpected Risks Found In Replacing DNA To Prevent Inherited Disorders
But for all the accolades, the method also has scientists concerned that the fatally flawed mitochondria can resurface to threaten a child's health.
Mito What? Mitochondrial Disease and Its Impact, One Families Story
My memorized paragraph says so much and yet so little. It describes what mitochondrial disease is, but not what it is to Julia & Maya. For them, mito takes its toll on a daily basis.
“3-Parent Baby” Procedure Faces New Hurdle
Mitochondrial disease can somehow creep back in, even if a mother’s mitochondria are virtually eliminated in an attempt to block inherited illnesses.
3 biological parents, 1 child, and an international controversy
The story of mitochondrial replacement therapy shows how ethically tricky genetic manipulation is becoming.
3-Person Embryos May Fail to Vanquish Mutant Mitochondria
A technique to stop children from inheriting mitochondrial diseases has the potential to backfire.
Leigh syndrome
Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years, but some patients do not exhibit signs and symptoms until several years later.
MELAS Syndrome
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting. MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting.
Types of Mitochondrial Myopathies
The main symptoms of mitochondrial myopathies are muscle weakness and atrophy (shrinking) and exercise intolerance. Furthermore, mitochondrial disorders can occasionally present only with these muscle symptoms and elevated or normal serum creatine kinase (CK), myalgia, or, less often, rhabdomyolysis (toxic muscle breakdown). It is important to remember that these symptoms vary greatly from one person to the next, even in the same family.
Foundation for Mitochondrial Medicine
The Foundation for Mitochondrial Medicine supports the development of the most promising mitochondrial disease research and treatments.
Mito Foundation
Mito Foundation supports people affected by mitochondrial disease (mito), funds essential research into the prevention, diagnosis, treatment and cures of mitochondrial disorders, and increases awareness and education about this devastating disease.
MitoAction
MitoAction is a nonprofit organization founded by patients, parents, and Boston hospital healthcare leaders who had a vision of improving quality of life for children and adults with mitochondrial disease.
MitoCanada
MitoCanada provides support and awareness to Canadians affected by Mitochondrial Disease while also supporting the advancement of research in the field of Mitochondrial Disease.
Mitochondrial Disease News
Mitochondrial Disease News is dedicated to providing comprehensive coverage of news related to mitochondrial diseases.
Mitochondrial Medicine Society
Founded in 1998 by doctors Richard Haas and Robert Naviaux, the MMS represents an international group of physicians, researchers and clinicians working towards advancing education, research and global collaboration in clinical mitochondrial medicine.
United Mitochondrial Disease Foundation
Our mission: To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
Cali and Ryann Spooner's Rare Mitochondrial Disease
It is my mission, my purpose, to keep going. Whether it is fundraising, networking, spreading the word or simply sharing our story. I truly believe that our babies will someday find what we are desperately seeking.
The Martin Family and Mito
My name is Lori Martin and I started this blog to keep family and friends updated as we live with Mito AND more importantly to raise awareness of this deadly disease. Our son Will was diagnosed with a Mitochondrial Disorder specifically Leigh’s Syndrome on July 5, 2011.
MedlinePlus
Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage. The symptoms of mitochondrial disease can vary.
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