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TOPIC #2: LEIGH'S SYNDROME — CELLULAR RESPIRATION AND HEALTH Cellular respiration is vital to our health. When it fails to work properly, serious diseases (and even death) occur. The connections between disease and respiration [glycolysis, the intermediate step, citric acid cycle (i.e. Krebs cycle), and the electron transport chain (ETC)] are being studied by scientists. While many mysteries still remain, much is also known. Leigh's syndrome is a rare central nervous system degenerative disorder that is due to various problems with cellular respiration. Patches of damaged tissue (called lesions) develop in the brains of children who are diagnosed with Leigh's. They exhibit poor motor skill function and underdeveloped muscles. Cell death is inevitable; it is a devastating and eventually lethal neurological genetic disease. Leigh's syndrome can be caused by several different mutant genes. In fact, at least 75 different mutations have been implicated as causes. In most cases, the mutant genes responsible for the Leigh's phenotype are found on chromosomes housed within the nucleus (nuclear DNA). But in about 20% of affected individuals, the mutant genes responsible for Leigh's syndrome are found in the mitochondrial DNA (mtDNA). Several specific cellular respiration anomalies have been identified as the causes of Leigh's syndrome. For example, some patients exhibit glitches in the conversion of pyruvate to acetyl-CoA during the intermediate step of cellular respiration (the pyruvate dehydrogenase complex does not function as it should). In other cases, electron transport chain (ETC) or ATP Synthase malfunctions have been identified. The most common mtDNA mutation affects ATP Synthase activity. There is published evidence that treating some Leigh's patients with high doses of certain vitamins (that are used in cellular respiration) can improve symptoms and extend life. However, this does not work for all Leigh's patients; it depends on which genes are defective. Advances in DNA technology and sequencing have facilitated the rapid identification of specific mutant genes in each patient, thereby allowing for more personalized and effective medical care. Once the specific cellular respiration problem has been identified, physicians can tailor treatments for each patient. This results in better clinical outcomes than were ever possible before.

TOPIC #2: LEIGH'S SYNDROME — CELLULAR RESPIRATION AND HEALTH
Cellular respiration is vital to our health. When it fails to work properly, serious diseases (and even death)
occur. The connections between disease and respiration [glycolysis, the intermediate step, citric acid cycle
(i.e. Krebs cycle), and the electron transport chain (ETC)] are being studied by scientists. While many
mysteries still remain, much is also known.
Leigh's syndrome is a rare central nervous system degenerative disorder that is due to various problems
with cellular respiration. Patches of damaged tissue (called lesions) develop in the brains of children who
are diagnosed with Leigh's. They exhibit poor motor skill function and underdeveloped muscles. Cell death is
inevitable; it is a devastating and eventually lethal neurological genetic disease. Leigh's syndrome can be
caused by several different mutant genes. In fact, at least 75 different mutations have been implicated as
causes. In most cases, the mutant genes responsible for the Leigh's phenotype are found on chromosomes
housed within the nucleus (nuclear DNA). But in about 20% of affected individuals, the mutant genes
responsible for Leigh's syndrome are found in the mitochondrial DNA (mtDNA).
Several specific cellular respiration anomalies have been identified as the causes of Leigh's syndrome. For
example, some patients exhibit glitches in the conversion of pyruvate to acetyl-CoA during the intermediate
step of cellular respiration (the pyruvate dehydrogenase complex does not function as it should). In other
cases, electron transport chain (ETC) or ATP Synthase malfunctions have been identified.
The most common mtDNA mutation affects ATP Synthase activity.
There is published evidence that treating some Leigh's patients with high doses of certain vitamins (that
are used in cellular respiration) can improve symptoms and extend life. However, this does not work for all
Leigh's patients; it depends on which genes are defective. Advances in DNA technology and sequencing
have facilitated the rapid identification of specific mutant genes in each patient, thereby allowing for more
personalized and effective medical care. Once the specific cellular respiration problem has been identified,
physicians can tailor treatments for each patient. This results in better clinical outcomes than were ever
possible before.

Added by Emily D.

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