education
Mitochondria
The mitochondrion is a small part of the cell whose main function is to provide energy for the cell. Thus, mitochondria act as the “batteries” for the cell, producing most of the cells energy via a process known as “oxidative phosphorylation”. Mitochondria are found in almost every cell in the body (except for the blood cells). Mitochondria are most plentiful in tissues that require a lot of energy. For example, muscle, brain and heart tissue have large numbers of mitochondria because they require large amounts of energy for their normal function.
Mitochondria are unique because they are the only part of the cell that contains their own genetic material (DNA) in addition to the cell’s nucleus. The reason why mitochondria contain their own DNA is probably because in ancient primordial life of the mitochondria one was engulfed by the cell and formed a symbiotic relationship with the cell. That is, the mitochondria were permitted to ”stay” within the cell, in return for producing large amounts of energy for the cell to use.
Mitochondrial Disease
Mitochondrial disease occurs when there is impaired mitochondrial function within the body. This may occur in one part of the body or in many parts of the body at the one time. If the mitochondria do not work properly they are unable to produce adequate levels of energy for the cell to function. Tissues that are typically affected require large amounts of energy such as muscle, brain, heart, ears and eyes. Demands for energy may change from time to time, and may vary from tissue to tissue. Therefore, mitochondrial disease may affect different individuals in different ways and at different times. The characteristic variability in symptoms amongst patients with mitochondrial disease presents a challenge for medical practitioners to diagnose patients with this disorder.
Tom's Story
Our third child, Tom, is an extremely cheerful and loving six-year-old full of laughter and smiles, yet he has had a complicated medical history and has undergone over 26 general anaesthetics and medical procedures to keep him ... read more
Kara's Story
Kara, our 10 year old daughter, is the eldest of 3 children, with a maternal family history of good health. So, when our little redhead started looking like the gawky, uncoordinated, nonathletic 3-4yr old girl, my immediate reaction was to blame the poor athlete genes on the in-laws ... read more
Rose's Story
My names is Rose and I was first diagnosed with mitochondrial disease at the age of 20. I had not heard of this disease until after I had experienced an intense eight months in hospital. I always used to get the occasional stomach ache ... read more
Peter's Story
Our brother Peter is one of five siblings, all of whom have been diagnosed as having MELAS - a form of mitochondrial disease. He was 34 years old when he had his first ‘stroke like episode’ which was a great shock to us all ... read more
Judy's Story
Judy was born in 1933. There was no indication of any medical problems then or until she was well into her adult years, although she lacked hand-eye coordination and was not physically robust. The first signs of a problem were when she began to go deaf in the mid-nineteen seventies ... read more