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Establishing a Diagnosis as soon as Possible

Mitochondrial disorders may be caused by mutations acquired or inherited , in mitochondrial DNA mtDNA , or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs , infections , or other environmental causes. Nuclear DNA has two copies per cell except for sperm and egg cells , one copy being inherited from the father and the other from the mother. Mitochondrial DNA, however, is strictly inherited from the mother and each mitochondrial organelle typically contains between 2 and 10 mtDNA copies.

During cell division the mitochondria segregate randomly between the two new cells. Those mitochondria make more copies, normally reaching mitochondria per cell. As mtDNA is copied when mitochondria proliferate, they can accumulate random mutations, a phenomenon called heteroplasmy.

If only a few of the mtDNA copies inherited from the mother are defective, mitochondrial division may cause most of the defective copies to end up in just one of the new mitochondria for more detailed inheritance patterns, see human mitochondrial genetics. Mitochondrial disease may become clinically apparent once the number of affected mitochondria reaches a certain level; this phenomenon is called " threshold expression ". This means that mitochondrial DNA disorders may occur spontaneously and relatively often.

Most mitochondrial function and biogenesis is controlled by nuclear DNA. Human mitochondrial DNA encodes 13 proteins of the respiratory chain , while most of the estimated 1, proteins and components targeted to mitochondria are nuclear-encoded. Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia , dementia , hypertension , lymphoma , retinopathy , seizures , and neurodevelopmental disorders.

A study by Yale University researchers published in the February 12, issue of the New England Journal of Medicine explored the role of mitochondria in insulin resistance among the offspring of patients with type 2 diabetes. A study conducted at the Pennington Biomedical Research Center in Baton Rouge, Louisiana [13] showed that this, in turn, partially disables the genes that produce mitochondria.


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Conditions such as Friedreich's ataxia can affect the mitochondria but are not associated with mitochondrial proteins. The effective overall energy unit for the available body energy is referred to as the daily glycogen generation capacity, [14] [15] [16] and is used to compare the mitochondrial output of healthy individuals to that of afflicted or chronically glycogen-depleted individuals. This value is slow to change in a given individual, as it takes between 18 and 24 months to complete a full cycle. The glycogen generation capacity is entirely dependent on, and determined by, the operating levels of the mitochondria in all of the cells of the human body ; [17] however, the relation between the energy generated by the mitochondria and the glycogen capacity is very loose and is mediated by many biochemical pathways.

Mitochondrial diseases are usually detected by analysing muscle samples, where the presence of these organelles is higher.


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  6. The most common tests for the detection of these diseases are:. Although research is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited.

    About this book

    Spindle transfer , where the nuclear DNA is transferred to another healthy egg cell leaving the defective mitochondrial DNA behind, is a potential treatment procedure that has been successfully carried out on monkeys. Using genetic engineering in attempts to produce babies free of mitochondrial disease is controversial in some circles and raises important ethical issues. In September a public consultation was launched in the UK to explore the ethical issues involved.

    The procedure could be offered from 29 October once regulations had been established. Research and clinical applications of MRT were overseen by laws made by federal and state governments. State laws were, for the most part, consistent with federal law. In all states, legislation prohibited the use of MRT techniques in the clinic, and except for Western Australia, research on a limited range of MRT was permissible up to day 14 of embryo development, subject to a license being granted.

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    Introduction and Definition

    Abstract Most mitochondrial cytopathies in infants are caused by mutations in nuclear genes encoding proteins targeted to the mitochondria rather than by primary mutations in the mitochondrial DNA. Supplemental Content Full text links. Possible indications include developmental delay, reduced growth, fatigue , migraine , muscle weakness, muscle pain, cardiomyopathy , liver failure, blindness , optic atrophy degeneration of the optic nerve , hearing loss , diabetes , and seizures. Clusters of signs and symptoms often emerge, indicating a discrete syndrome.

    For example, in individuals of age three months to two years, failure to thrive, progressive neurological degeneration with decreased muscle tone, uncoordinated movement, and involuntary and repetitive muscle contraction , and visual, respiratory, and cardiac problems are characteristic of Leigh syndrome. Kearns-Sayre syndrome, on the other hand, is characterized primarily by progressive weakness or paralysis of the eye muscles and retinopathy damage to the light-sensing retina of the eye , which can result in drooping eyelids and a loss of vision; onset typically is before age The diagnosis of mitochondrial disease is based on clinical features and, when possible, the results of genetic testing.

    Maternal family history of disease may provide important diagnostic insight, since inherited mitochondrial diseases are passed from the mother to her offspring and are transmitted strictly down maternal family lines.

    Mitochondrial Disorders Caused by Nuclear Genes | SpringerLink

    Persons affected by mitochondrial diseases may receive genetic counseling to assess the risk of passing on an inherited disorder. Treatment for mitochondrial diseases is supportive. Optical aids, including lens replacement, and hearing aids , such as cochlear implants , may benefit individuals with visual or auditory deficits. Some patients may benefit from implanted cardiac pacemakers or defibrillators. Supportive therapies for deficiencies in specific ETC components may include oral administration of substances such as coenzyme Q 10 , l -creatine creatine monohydrate , or riboflavin.

    Exercise may also help relieve symptoms in some individuals.

    Mitochondrial Diseases

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    Mitochondrail DNA: Prometheus' Gift or Pandora's Box?

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