Mitochondrial Disease: Leigh Syndrome

Mitochondrial disease is an inherited chronic, genetic disorder that results from failure of mitochondria in the cell to produce the amount of energy needed for cell and/or organ function (About). The disease is an inherited condition that runs in families. Every 30 minutes a child is born that will at some point develop mitochondrial disease by the age of 10 (What). Mitochondria, also known as, the powerhouses of the cell, are responsible for producing more that 90% of cellular energy (About). They are made up of enzymes that turn nutrients into cellular energy (About). There is not a clear, cut way to diagnose mitochondrial disease (Mitochondrial). Therefore, the diagnosis is made through a combination of clinical observations, laboratory

Genes associated in Leigh’s Syndrome are involved in energy production in mitochondria (Leigh Syndrome.). The syndrome is known by the progressive loss of mental and movement abilities (Leigh Syndrome.). Leigh’s syndrome involves genetic mutations in mitochondrial DNA that interfere with energy sources that run cells in areas of the brain that play a role in motor movements (Leigh's Disease (Leigh's Syndrome)). Since Leigh’s Syndrome is a neurological disorder, it is characterized by the deterioration of the central nervous system (spinal cord, brain, etc.) (Leigh's Disease (Leigh's Syndrome)). The first signs of Leigh’s syndrome occur in infants: vomiting, diarrhea, and difficulty swallowing (Leigh Syndrome.). The symptoms, which rapidly progress, are caused by areas of damaged tissue (lesions) that develop in the brain (Leigh Syndrome.) In about 20-25% of people with Leigh’s syndrome it is inherited through mitochondrial pattern known as maternal inheritance (Leigh Syndrome.). Leigh’s Syndrome is inherited from the mother as a mutation found in mitochondrial DNA (mtDNA) (Leigh Syndrome | Disease). The mtDNA of the father is carried by sperm cells, but during fertilization it is lost. Therefore all of the mtDNA comes from the mother (Leigh Syndrome | Disease). A mother with Leigh’s disease will pass the traits to all of her children. However, only daughters will pass the mutation to the next generation (Leigh Syndrome | Disease). As children get older and the disease progresses, symptoms can include lack of muscle tone, generalized weakness, and episodes of lactic acidosis (Leigh's Disease (Leigh's Syndrome)). High levels of lactic acid in the brain and blood cause lactic acidosis (Leigh's Disease (Leigh's Syndrome)). Treatments for Leigh’s Syndrome include supportive therapies such as physical therapy and speech therapy (Leigh's Disease). To manage lactic