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MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a

multiple lipomata. Mitochondrial disorders may present at any age, and this holds truth for MERRFS, since it forms part of them[5]
.

Symptoms

An individual displaying MERRFs syndrome will manifest not only a single symptom, but regularly patients display more than one affected body part at a time. It has been observed that patients with MERRF syndrome will primarily display

neuropathy, spasticity, lipomatosis, and/or cardiomyopathy with wolff parkinson-white syndrome. Most patients will not exhibit all of these symptoms, however more than one of these symptoms will be present in a patient who has been diagnosed with MERRFS disease. Due to the multi-symptoms presented by the individual, the severity of the syndrome is very difficult to evaluate[6]. Mitochondrial disorders may present at any age, and this holds truth for MERRS, since it forms part of them. Therefore, if a patient is presenting some of these symptoms, the doctor is able to narrow it down to MEERF mitochondrial disorder.[5]

Causes and Prevention

Mitochondrial inheritance

The cause of MERRF disorder is due to the

tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.The remaining mutations only account for 10% of cases, and the remaining 10% of he patients with MERRF did not have an identifiable mutation in the mitochondrial DNA.

Many genes are involved.[9] These genes include:

It involves the following characteristics:

  • progressive myoclonic epilepsy
  • "Ragged Red Fibers" - clumps of diseased
    mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain .

There is currently no cure for MERRF.

Diagnosis

The diagnosis varies from individual to individual, each is evaluated and diagnosed according to their age, clinical phenotype and pressed inheritance pattern[13]. If the Individual has been experiencing myoclonus the doctor will run a series of genetic studies to determine if its a mitochondrial disorder.

The molecular

genetic studies are run to identify the reason of for the mutations underlying the mitochondrial dysfunction. This approach will avoid the need for a muscle biopsy or an exhaustive metabolic evaluation. After the sequencing the mitochondrial genomes, four points mutations in the genome can be identified which are associated with MERRF: A8344G, T8356C, G8361A, and G8363A. The point mutation[10] A8344G is mostly associated with MERRF, [7] in a study published by Paul Jose Lorenzoni from the Department of neurology at University of Panama [8] stated that 80% of the patients with MERRF disease exhibited this point mutation. The remaining mutations only account for 10% of cases, and the remaining 10% of the patients with MERRF did not have an identifiable mutation in the mitochondrial DNA.[14]

If a patient does not exhibit mitochondrial DNA mutations, there are other ways that they can be diagnosed with MERRF. They can go through

computed tomography (CT) or magnetic resonance imaging (MRI).The classification for the severity of MERRF syndrome is difficult to distinguish since most individuals will exhibit multi-symptoms[14]. For children with complex neurologic or multi-system involvement, as the one described below, is often necessary[5]
.

History and Physical Examination of the patient

A detailed family history should be obtained from at least three generations. In particularly a history to determine if there has been any

neuropathy and dysautonomia, or observe heart conditions such ascardiomyopathy. The patients history might also exhibit a problem in their kidney, such as proximal nephron dysfunction. An endocrine condition, for example diabetes and hypoparathyroidism. The patient might have also had gastrointestinal condition which could have been due to liver disease, episodes of nausea or vomiting. Multiple lipomas in the skin, sideroblastic anemia and pancytopenia in the metabolic
system or short stature might all be examples of patients with possible symptoms of MERRF disease.

Mechanism

The mechanism by which MERRFs syndrome occur is yet not well understood. The human mitochondrial

muscle fiber.[7] These may extend throughout the muscle fiber as the disease severity increases. The mitochondrial aggregates cause the contour of the muscle fiber to become irregular, causing the "ragged" appearance.[4]

Treatment and Prognosis

Like many

diabetes, deafness or cardiac disease
, are treated in combination to manage symptoms.

See also

Recent Studies

The journal of child neurology published a paper in 2012, Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF), discusses possible new methods to test for MERRF and other mitochondrial diseases, through a simple swabbing technique. This is a less invasive techniques which allows for an analysis of buccal mitochondrial DNA, and showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, also detectable in blood[17].This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening mitochondrial disease with other clinical presentations.

Proceedings of the

anticodon mutation, which solely affected aminoacylation.[18]

References

  1. ^ Gene Reviews: MERRF
  2. PMID 20301693
    .
  3. PMID 20301403
    .
  4. ^
    PMID 20301403
    .
  5. ^ a b c "Mitochondrial myopathies: Clinical features and diagnosis". www.uptodate.com. Retrieved 2017-11-07.
  6. ^
    PMID 14967777
    .
  7. ^ a b c "Myoclonus Epilepsy Associated with Ragged-Red Fibers (MERRF) Diagnosis Discussed by Researchers - Mitochondrial Disease News". Mitochondrial Disease News. 2015-05-04. Retrieved 2017-11-08.
  8. ^
    ISSN 0004-282X
    .
  9. ^ Online Mendelian Inheritance in Man (OMIM): MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF - 545000
  10. ^
    PMID 8069654
    .
  11. PMID 7669057
    .
  12. PMID 15184630
    .
  13. ^ a b "Mitochondrial myopathies: Clinical features and diagnosis". www.uptodate.com. Retrieved 2017-11-08.
  14. ^
    PMID 17878308.{{cite journal}}: CS1 maint: PMC format (link
    )
  15. ISSN 0364-3190
    .
  16. ^ Gene reviews: MERRF: Management of patients
  17. doi:10.1177/0883073811420870
    .
  18. PMID 17878308.{{cite journal}}: CS1 maint: PMC format (link
    )

External links
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