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Taylor Leigh Reed Biology I Honors Genetic Disorder Project



Leigh's Disease

The genetic disorder I was given to research was Leigh's Disease or Leigh's Syndrome. Leigh's Disease is a rare inherited neurometabolic disorder that affects the Central Nervous System (CNS). It is caused by mutations in the mitochondrial DNA or a defective enzyme called pyruvate dehydrogenase. When the DNA of the mitochondria is mutated there is a lack of enegry, and without the energry the CNS is affected, and that causes progessive degeneration of motor functions.

Leigh's Disease begins between the ages of 3 months and 2 years, this disease progesses very rapidly and has many symptoms. Poor sucking abilitly and loss of head control and motor skills are the main detectors. As the disease begins to show loss of appetite, vomiting, irritability, continuous crying, and seizures are some symptoms that pair along with the loss of motor skills. When the disease begins to progessifively get worse the patient begans to become weaker, lose muscle tone, and have episodes of lactic acidosis which lead to impairment of respiratory and kidney function.

The chances of a child living with Leigh's disease is not very good. The lack of mitochondrial activity and pyruvate dehydrogenase deficiency tend to die with a few years, if they have a case with partial deficiencies they have a better chance of living to mid-teenage years.

There was a few treatments to slow down the progess of Leigh's Disease, but there are none now that have cured it. The most common treatment is taking Vitamin B1, also called Thiamine. You could also orally take sodium bicarbonate.



Sources

"NINDS Leigh's Disease Information Page." //National Institute of Neurological Disorders and Stroke//. 20 April 2010. Keyword: Leigh's Disease. "News Pictures." //Echo.co.uk//. 20 April 2010. Keyword: Leigh's Disease. "Brandon's Wish." //Make A Wish//. 20 April 2010. Keyword: Leigh's Syndrome.