Mitochondrial disease can therefore become a clinical diagnosis that is, a diagnosis based on symptoms and signs and basic investigations in the hands of the right specialist. Therefore, other illnesses are usually investigated long before mitochondrial disease is considered.
Given its elusive nature, mitochondrial disease should be considered in all patients with an atypical presentation, particularly those suggested in the diagram below. Mitochondrial disease can be classed as primary or secondary. Generally, when we talk of mitochondrial diseases, we are usually talking about the primary type. The secondary type is always related to another illness, an illness that has caused the mitochondria to malfunction despite the normal formation of mitochondria initially.
Primary mitochondrial diseases are therefore genetic disorders and may present in a number of different ways:. Therefore, due to the broad range of presentations and genetic defects of this illness, it can originate at any point in time. Due to the illusive nature of the illness, it is difficult to know the exact incidence of mitochondrial disease.
Worldwide statistics have varied considerably over time, but conservatively, from recent Australian studies, about 1 in people will carry a mitochondrial genetic defect — that equates to nearly , Australians.
Not all of these people will develop the illness, and many may develop subtle symptoms that go unnoticed during their lifetime… BUT the risk of developing serious illness in the general population is about 1 in 5, As we study the illness more and diagnose it better that incidence will rise. The prognosis and pathway for any mitochondrial patient is hard to predict as it is an illness that can strike many parts of the body to varying degrees.
As mentioned earlier, combinations of symptoms differ greatly even in those with exactly the same genetic defect. For children to develop the illness, it means they have a high load of abnormal mitochondria. Hence, the illness tends to progress more quickly than in adults and with a poorer prognosis. The older a person is when symptoms occur, the slower the progression and the better the prognosis. People who develop symptoms late in life are often not diagnosed at all and will pass away from other unrelated illnesses.
Individual symptoms will cause corresponding disability with progression of the illness. Poor mobility, poor coordination, weakness and fatigue can sometimes create a need for a walking frame or a wheelchair. Hearing loss is often helped by hearing aids or a cochlear implant in severe cases. Some patients find they need the help of a carer or some home-help. The local hospital can often provide appropriate services by allied health professionals. A health professional such as a social worker, occupational therapist, speech therapist, and physiotherapist, with their access to a variety of equipment, home aids and services, can help the mitochondrial patient cope better with daily life.
Unfortunately, at the moment there is no cure. There is also no single treatment for mitochondrial disease and treatment will need to be tailored for each individual. However, appropriate lifestyle changes are an effective treatment. This reduces stress on the mitochondria and creates the optimal environment for the mitochondria to function. Regular visits to a specialist will monitor any progression or changes in the illness and if found early enough, each complication or development can be better managed.
Now we know a great deal more and the appropriate management of the illness may not only improve the prognosis of the individual, it can also greatly improve their quality of life. Doing nothing can worsen the symptoms, increase the level of disability, decrease independency and worsen the prognosis.
There is a medical void that currently exists regarding this illness, partly due to the illusive nature of the illness and partly due to it being relatively new. Bendavia targets mitochondrial dysfunction, a key element believed to be at the root of a variety of serious, debilitating diseases, and has been developed to treat an underlying defect in mitochondria to reduce oxidative stress and increase energy supply to affected cells and organs.
Bendavia penetrates the cellular and outer mitochondrial membranes, and targets cardiolipin, which is found exclusively in the inner mitochondrial membrane. Bendavia has been shown to positively impact dysfunctional mitochondria in nonclinical studies, with no effect in healthy mitochondria. In this way, Bendavia may address mitochondrial disease and dysfunction, where no FDA-approved treatments currently exist. Ocuvia, a mitoprotective agent for retinal diseases, has in nonclinical studies demonstrated potential to be the first investigational topical ophthalmic formulation to treat back-of-eye diseases, offering a pragmatic alternative to treatments that require physician-administered ocular injections.
Ocuvia is designed to treat the underlying defects in mitochondria associated with diseases such as Diabetic Macular Edema, genetic Mitochondrial Optic Neuropathies and Age-related Macular Degeneration. These defects include excessive oxidative stress and decreased energy supply to affected cells of the eye, particularly in the retina. Stealth notes that the science underlying Bendavia and Ocuvia is supported by more than independent, peer-reviewed publications and abstracts, and that these mitochondrial-targeted candidates represent a novel therapeutic approach to address a wide variety of diseases having unmet treatment needs including orphan mitochondrial diseases and mitochondrial medicine.
Novato, California based Raptor Pharmaceutical Corp. On Monday, August 17, Raptor announced that it has received U. Treatment of inherited mitochondrial diseases with cysteamine is potentially based on different mechanisms of action than that for treatment of cystinosis, although Raptor says one key biochemical reaction, which is the basis for the treatment of cystinosis, seems to play a significant role also.
Cysteamine is an aminothiol that participates in a thiol-disulfide interchange reaction converting cystine into cysteine and cysteine-cysteamine mixed disulfide. This cysteine-cysteamine mixed disulfide can exit the lysosome through the lysosome membrane as it is transported through the intestinal barrier or the blood brain barrier, by the lysine transporter or a lysine-like transporter, the PQLC2 protein. This biochemical reaction results in an increase of the cellular thiol pool, making more cysteine available for glutathione GSH synthesis.
Glutathione is composed of the amino acids cysteine, glutamate and glycine. Availability of cysteine, which exists primarily as cystine, is the major rate-limiting factor in GSH production. Leigh syndrome is a severe neurological disorder caused by genetic defects in mitochondrial or nuclear DNA affecting respiratory chain function that typically results in death within the first decade of life.
Ears hearing loss. Systemic failure to gain weight, fatigue, short stature, unexplained vomiting, respiratory problems.
Getting a Diagnosis According to the Mitochondrial Care Network, a correct diagnosis is difficult because many common conditions have been linked to unhealthy mitochondria. Testing for mitochondrial disease typically includes:. Blood and urine to check levels of amino acids, acylcarnitines, lactate, pyruvate and urine organic acids.
DNA testing. Muscle biopsy typically taken from the thigh. Shorten the Diagnostic Journey See if you qualify for a no-cost genetic test. Learn More. How many individuals are affected by mitochondrial disease? Can adults have mitochondrial disease?
When is someone with mitochondrial disease considered high risk? What is the prognosis for individuals affected by mitochondrial diseases? How does UMDF support research to find a cure? Educate Yourself at Mito University Access videos, articles and resources to better navigate your journey.
It also can cause developmental delay, seizures, and dementia. Symptoms: This syndrome causes severe anemia, neutropenia low level of immune cells, called neutrophils , thrombocytopenia low blood platelet count , and malfunction of the pancreas. Pearson syndrome is usually fatal in infancy. Skip to main content.
Search MDA. Search Donate. Mitochondrial Myopathies MM. Leigh syndrome subacute necrotizing encephalomyopathy and maternally inherited Leigh syndrome MILS Onset: Typically in infancy or early childhood Symptoms: Leigh syndrome causes brain abnormalities that can result in ataxia impaired coordination , dystonia involuntary muscle movement , external ophthalmoplegia paralysis of the eye muscles , progressive neurodegeneration seizures, lactic acidosis buildup of lactate in the body , vomiting, weakness, hypotonia decreased muscle tone , developmental delays, and altered control over breathing.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes MELAS Onset: Usually in childhood Symptoms: MELAS causes lactic acidosis buildup of lactate in the body and recurrent stroke-like episodes in the brain, migraine-type headaches, vomiting, and seizures, and can lead to permanent brain damage.
Neuropathy, ataxia, and retinitis pigmentosa NARP Onset: Late-childhood or adult onset is common Symptoms: NARP causes neuropathy a malfunction of the nerves that can lead to sensory impairment and muscle weakness , muscle weakness, epilepsy, ataxia impaired coordination , and retinitis pigmentosa degeneration of the retina in the eye, with resulting loss of vision.
Assessment of visual function in chronic progressive external ophthalmoplegia. Eye doi Finsterer, J. Pediatric Neurology doi
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