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Leigh Syndrome

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Corinne Theriault

on 3 November 2012

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Transcript of Leigh Syndrome

asdf Leigh's Syndrome What is Leigh's Syndrome? A rare inherited Neurometabolic disorder that affects the central nervous system
Begins in infants between the ages of three months and two years
Rarely, it occurs in teenagers and adults
Characterized by progressive loss of mental and movement abilities
Typically results in death within a couple of years (usually due to respiratory failure)
Can be caused by mutations in mitochondrial DNA, nuclear DNA, or enzyme deficiencies Symptoms: Early Stages
Loss of head control
Poor sucking ability
Loss of appetite
Vomiting
Lots of crying and irritability

As Syndrome Progresses
Lack of muscle tone
Damage to kidney and respiratory function Causes: Mutations of the mitochondrial DNA or nuclear DNA
The majority is caused by nuclear DNA with only 10-40% caused by mitochondrial DNA mutation
It can also be caused by deficiencies of an enzyme called Pyruvate Dehydrogenase
Both the electron transport chain and pyruvate oxidation have been implicated as causes of Leigh's Pyruvate Dehydrogenase The Pyruvate Dehydrogenase Complex (PDC) converts pyruvate to Acetyl-CoA which is one of the two essential substrates needed to produce citrate
A deficiency in this complex limits the production of citrate. Because citrate is the first substance in the Kreb's Cycle, the cycle cannot proceed
This results in a poor availability
of ATP that is essential in the
stages of
neural development
Therefore a deficiency may lead to brain malformation because of the lack of energy. This malfunction causes lactic acidosis, which is a build up lactic acid. This occurs because of a process called Lactic Acid Fermentation Mutations of Mitochondrial DNA: Genetic mutations in the mitochondrial DNA interferes with the energy sources that run cells in an area of the brain that plays a role in motor movementsTherefore, it results in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions. Lactic Acidosis: Because the pyruvate molecule cannot be "broken down" into acetyl-CoA because of the deficiency in Pyruvate Dehydrogenase, it will broken down into Lactic Acid
This process is called Lactic Acid fomentation, which is when the NADH created from glycolysis, give their H+ ions to the pyruvate molecule, which turns it into Lactic Acid
The reason the NADH gives up its H+ ion to pyruvate is so glycolysis can continue
As glycolysis continues, more lactic acid is being created causing a build up
This causes stiffness and muscle soreness. The Mitochondria Mitochondria are an essential organelle in eukaryotic cells
Their main function is to convert the potential energy of glucose into ATP
They carry their own DNA, called mitochondrial DNA
If the mitochondria fail, or function improperly, in the case of Leigh's Syndrome, crucial cells in the brain stem are affected
This causes a lack of energy in the cells, which, in turn, affects the central nervous system
Cells in Leigh's syndrome patients have slower metabolisms, and take up less oxygen and glucose than healthy cells. The Mitochondria Mitochondria are an essential organelle in eukaryotic cells. Their main function is to convert the potential energy of glucose into ATP. They carry their own DNA, called mitochondrial DNA
If the mitochondria fail, or function improperly, in the case of Leigh's Syndrome, crucial cells in the brain stem are affected This causes a lack of energy in the cells, which, in turn, affects the central nervous system
Cells in Leigh's syndrome patients have slower metabolisms, and take up less oxygen and glucose than healthy cells. Inheritance Leigh's Syndrome has different inheritance patterns 1 Most commonly inherited in an autosomal recessive pattern: both copies of the gene in each cell have mutations
This form of Leigh Syndrome is linked in one of several genes causing an enzyme deficiency affecting the nervous system resulting in neurological deterioration
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs of symptoms of the condition 2 In about 25% of people with Leigh Syndrome, it was inherited in a mitochondrial pattern, which is also known as maternal inheritanceIn this case, only the females pass mitochondrial conditions to their childrenOccasionally, mutation in the mitochondrial DNA occur spontaneously, and there is no history of Leigh Syndrome in the family 3 In a small number of affected people with mutations in nuclear DNA, Leigh syndrome is inherited in an X-linked recessive pattern
In this condition, the mutated gene is located on the X chromosome, which is one of the two sex chromosomes. In females, (XX), the mutation would have to occur in both copies of the gene to cause the disorder. In males, (XY), one altered copy of the gene in each cell is sufficient enough to cause the condition Treatment Most common type of treatment for Leigh's Syndrome is Thaimine or Vitamin B1
Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis.
In individuals who have X-linked form of Leigh's disease, a high-fat, low-carbohydrate diet may be recommended $ Thiamine (vitamin B1) tablets can be purchased at the drugstore for a price of around $10. However, treating an new born for this disease can be very pricy depending on the treatment and care that the hospital provides. It also depends on if you are to keep your child in the hospital or not. Caring for a person with Leigh's Syndrome can become expensive. Quality of Life A person with Leigh's Syndrome can still manage to have a good quality of life. However, this depends on the life span of that person. Most people affected with this disease do not have a very long time to live. They may face difficulties when it comes to everyday tasks, but with the right person taking care of them, the patient could have a great quality of life minus the troubles that come with having this disease

There are a lot of different organizations and foundations to help support and conduct research for not only those who have Leigh's Syndrome, but also for those who have various mitochondrial disorders or just rare diseases in general A Leigh's Disease Patient Christopher, a Leigh's disease patient, was diagnosed at 18 months with a progressive and fatal mitochondrial disorder. He was place on a high fat/protein diet and was not allowed any sugar. He also started taking B1.

He also suffered from alctic acidosis and wobbly gait. At 7 years of age, his parents took him to a Medical Center, where his disease was then confirmed. Also at 7 years of age, he started using a walker, with which he loved to clown around. By 10 years of age, Christopher was in a wheelchair.

Chris graduated from high school, but his poor vision made his classes difficult for him. He then died at the age of 20. He also had a brother who was not affected by Leigh's Syndrome
Christopher Christopher was diagnosed with Leigh's disease, a progressive and fatal mitochondrial disorder. He was placed on a high fat/protein diet with no sugar and started taking B1.

He also suffered from lactic acidosis and wobbly gait. At 7, his parents took him to a Medical Center, where his disease was confirmed. At 7, he started using a walker, with which he loved to clown around. By 10 Christopher was in a wheelchair.

Christopher graduated from high school, but his poor vision made his classes difficult. He died of at age 20. Christopher has one brother who is not affected. References
http://www.judesmitojourney.com/mgm.htm

http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm#Organizations

http://www.rightdiagnosis.com/l/leigh_syndrome/treatments.htm#treatment_shop

http://emedicine.medscape.com/article/167027-overview

http://www.nlm.nih.gov/medlineplus/ency/article/000391.htm

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