Velickova, Nevenka (2016) Molecular basis of mitochondrial disease. In: VIth Congress of Union of Associations of Medical Laboratory and Sanitary Technicians of the Republic of Macedonia, 06-09 Oct 2016, Struga, R.Macedonia.
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Abstract
Introduction: Mitochondrial disorders have the highest incidence among congenital metabolic diseases, and are thought to occur at a rate of 1 in 5000 births. About 25% of the diseases diagnosed as mitochondrial disorders in the field of pediatrics have mitochondrial DNA abnormalities. Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. The FXN gene codes for production of a protein called "frataxin". Without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain and heart muscle cells) cannot effectively produce energy and have been hypothesized to have a buildup of toxic byproducts leading to what is called “oxidative stress.”Aims of the study: To indicate the importance of early diagnose and possibilities of the treatment of patients with mitochondrial disease. Material and methods: A diagnosis of Friedreich's ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. They are excellent opportunity to extend the life of patients with Friedreich 's ataxia and other mitochondrial disease. Conclusion: Advances in understanding the genetics of mitochondrial disease are leading to breakthroughs in treatment. Genetic testing is essential for proper clinical diagnosis, and can aid in prenatal diagnosis and determining a person’s carrier status. Genetic counselors can help explain how mitochondrial disease is inherited. This is very important for patients with Friedreich 's ataxia and other mitochondrial disease, and that will continue their lifes.
| Item Type: | Conference or Workshop Item (Speech) |
|---|---|
| Subjects: | Medical and Health Sciences > Basic medicine |
| Divisions: | Faculty of Medical Science |
| Depositing User: | Nevenka Velickova |
| Date Deposited: | 20 Sep 2016 14:11 |
| Last Modified: | 20 Sep 2016 14:11 |
| URI: | https://eprints.ugd.edu.mk/id/eprint/16259 |
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