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Mitochondrial Disease

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Sarah Matthews

on 24 November 2012

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Transcript of Mitochondrial Disease

Sarah Matthews Mitochondrial Disease What is it? Mitochondrial disease is a term that refers to a group of disorders. Each of these disorders involve a problem with mitochondria. Mitochondria are tiny structures inside almost every cell in your body; all the way from your skin to the organs inside your body. Their main job is to use the food and oxygen that enter the cells to make energy. Almost all of the energy your body needs for daily life and growth comes from mitochondria. ;(What is mitochondrial disease? | MitoCanada (n.d) Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a results of dysfunction of the mitochondrial respiratory chain. The mitochondrial respiratory chain is the essential final common pathway for aerobic metabolism, and tissues and organs that are highly dependent on aerobic metabolism are greatly involved in mitochondrial disorders. ;(Chinnery, 2000) What types are there? There are so many types of mitochondrial disease that it would be impossible to name them all, and many have yet to be discovered. Each condition is the result of a genetic mutation- a specific change in the genetic material of the mitochondria. This mutation causes the mitochondria to fail. Pearson Syndrome What is it? Some types include: -Kearns-Sayre syndrome
-Optic atrophy 1
-Mitochondrial Parkinson's disease
-Leigh syndrome -Mitochondrial DNA depletion syndrome
-Barth syndrome
-Pyruvate carboxylase deficiency
-Beta ketothialase deficiency
-Pyruvate dehydrogenase deficiency -Pearson syndrome Pearson syndrome is a rare progressive condition characterized by abnormal pancreatic functioning and sideroblastic anemia. Pearson syndrome is a type of mitochondrial disease caused by the loss or deletion of large pieces of DNA from tiny substances of cells, which are called mitochondria. What are the signs and symptoms? -Severe refractory anemia
-Low RBC count
-Neutropenia
-Reduced platelet count -Fatigue
-Chronic diarrhea
-Malformed pancreas
-Pancreatic dysfunction Is there any treatment? -Blood transfusions
-Digestive health What is the prognosis? Death during infancy is common and survival into adulthood is uncommon. Death is usually due to severe infections metabolic crisis or
liver failure. ;(Rogers, 2012) How do the mitochondria work? Mitochondria convert oxygen, and the sugar, fat and protein from foods to The body uses that energy for daily function and growth. What are the causes of mitochondrial disease? Mitochondrial disease is caused by a genetic mutation of the nuclear DNA or mitochondrial DNA. Mitochondrial disease is an inherited condition that is genetic. It is important to determine which type of mitochondrial disease inheritance is present, in order to predict the risk for recurrence in future children. The types of mitochondrial disease inheritance includes: nDNA Inheritance -If this gene trait is recessive, often no other family members will appear to be affected. There is a 25% chance of the trait occurring in other siblings.
-If this gene trait is dominant, the disease often occurs in other family members. There is a 50% chance of the trait occurring in other siblings. MtDNA Inheritance -There is a 100% chance of the trait occurring in other siblings, since all mitochondria are inherited from the mother, although symptoms might be either more or less severe. Combination of mtDNA and nDNA -Relationship between nDNA and mtDNA and their correlation in mitochondrial formation is unknown.
;(How is mitochondrial disease inherited? (n.d). What are the signs and symptoms of mitochondrial
disease? The severity of mitochondrial symptoms is different from person to person. The most common symptoms are: -Poor growth
-Loss of muscle coordination
-Neurological problems
-Autism, autistic-like features
-Visual/hearing problems
-Learning disabilities
-Heart, liver or kidney disease -Gastrointestinal problems
-Diabetes
-Increased risk of infection
-Thyroid/adrenal dysfunction
-Autonomic dysfunction
-Neuropsychological changes
-Seizures Why is mitochondrial disease
difficult to diagnose? Mitochondrial disease tends to be very difficult to diagnose. The symptoms can often apply to other childhood diseases. Some of the testing for mitochondrial diseases, for example muscle biopsies, are very expensive, which may be a factor in deciding whether or not to utilize that method. ;(Why are some instances of mitochondrial diseases misdiagnosed? (n.d). Sometimes even after a thorough evaluation and testing, a mitochondrial disease diagnosis is still not clear. Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. ;(About Mitochondrial Disease, (n.d). How is mitochondrial disease
diagnosed and treated? Diagnosis
-There is no reliable and consistent means of diagnosis
-Diagnosis can be made through physicians who specialize in mitochondrial disease
-Blood DNA testing
-Muscle biopsy Treatment
-Treatment consists of vitamin therapy and conserving energy
-Goal is to improve symptoms and slow progression of the disease
-Pace activities
-Maintain an ambient environmental temperature
-Avoid exposure to illness
-Ensure adequate nutrition and hydration ;(About
Mitochondrial Disease, (n.d). What are the challenges of living with mitochondrial
disease?
-Affects multiple organs, family members and generations
-Lack of awareness and understanding
-Mitochondrial disease is unpredictable, day to day, hour to hour patients can develop symptoms and their stability can be threatened
-Difficulties with diagnosis may interfere with a patient's ability to obtain adequate recognition ;(About Mitochondrial Disease, (n.d).

What is the prognosis for those with mitochondrial
disease? The majority if people with mitochondrial disease live for years with their disease well managed and their life expectancy unaltered. The prognosis for children who are severely affected by mitochondrial disease is poor. Mutations such as Leigh syndrome are very severe. Adults who are diagnosed with adult-onset mitochondrial disease face a different set of challenges, from loss of income due to disability, requiring additional care and support, additional medical costs, and other concerns. Suffering with or having a family member with mitochondrial disease has a significant impact on you and your family.
-Physical
-Emotional


-Social
-Financial Some effects may be: Many parents change their jobs because their child needs more time, attention and visits to various doctors and specialists. The social costs of this disease are quite high due to the many visits to physicians. ;(Prognosis, (n.d). Literature Cited About Mitochondrial Disease - Mito FAQ | Mitochondrial Disease
Action Committee - MitoAction. (n.d.). Mitochondrial Disease Action Committee - MitoAction. Retrieved November 23, 2012, from http://www.mitoaction.org/mito-faq#howdiagnosed
Chinnery, P. (2000, June 8). Mitochondrial Disorders Overview - GeneReviews - NCBI
Bookshelf. National Center for Biotechnology Information. Retrieved November 23, 2012, from http://www.ncbi.nlm.nih.gov/books/NBK1224/ Prognosis | MitoCanada. (n.d.). MitoCanada | Supporting families impacted by Mitochondrial
Disease. Retrieved November 23, 2012, from http://www.mitocanada.org/about-mitochondrial-disease/prognosis/ Rogers, Z. (2012, June 18). Medscape: Medscape Access. Medscape: Medscape
Access. Retrieved November 23, 2012, from http://emedicine.medscape.com/article/957186-clinical#a0218 Types of Mitochondrial diseases - RightDiagnosis.com. (n.d.). Right Diagnosis. Retrieved
November 23, 2012, from http://www.rightdiagnosis.com/m/mitochondrial_diseases/subtypes.htm What is Mitochondrial disease? | MitoCanada. (n.d.). MitoCanada | Supporting families impacted by
Mitochondrial Disease. Retrieved November 23, 2012, from http://www.mitocanada.org/about-mitochondrial-disease/what-is-mitochondrial-disease/ Why are some instances of mitochondrial diseases misdiagnosed? - Sharecare. (n.d.).
Expert Health Information - Questions and Answers - Sharecare. Retrieved November 23, 2012, from http://www.sharecare.com/question/why-instances-mitochondrial-diseases-misdiagnosed How is mitochondrial disease inherited? | MitoCanada. (n.d.). MitoCanada | Supporting families
impacted by Mitochondrial Disease. Retrieved November 23, 2012, from http://www.mitocanada.org/about-mitochondrial-disease/how-is-mitochondrial-disease-inherited-2/ ;(About Mitochondrial Disease, (n.d).
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