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by mtarsi

There are many misconceptions about how the diagnosis of mitochondrial disease is made.  The diagnosis of mitochondrial disease is not a simple process for many reasons:

Jun 30, 2008 Comments: 0
by mtarsi

Mitochondrial disease is actually a group of disorders that vary in their inheritance pattern.  The majority are caused by defects in nuclear-encoded genes, and follow an autosomal recessive pattern in which there may be history of affected siblings but (unrelated) parents are asymptomatic carriers.  Carrier parents have a 1 in 4 or 25% chance in every pregnancy of having a child with mitochondrial disease.  It should be noted that some carriers display mild symptoms (Haas, 2007).

Jun 30, 2008 Comments: 0
by mtarsi

Since all organ systems are energy-dependent, any one is at risk for becoming dysfunctional in the setting of reduced energy synthesis. Theoretically then any organ system might become involved. This presents a challenge to providers who care for mitochondrial patients - the need to monitor closely an individual over the long term and screen for treatable complications.

Jun 30, 2008 Comments: 0
by mtarsi

All organ systems are dependent on OXPHOS energy production.  Whether or not organ function occurs depends in part on whether energy production meets a minimum threshold for that organ (below which dysfunction occurs).   Some organs are more highly dependent and may show symptoms even with a relatively small drop in energy production.  For example, the central nervous system has a lower threshold (relative to other organs) at which it will start to show evidence of functional impairment.  Furthermore, energy production over the years of a lifetime becomes less effic

Jun 30, 2008 Comments: 0
by mtarsi

Oxidative phosphorylation (OXPHOS) includes the breakdown of pyruvate through the pyruvate dehydrogenase complex supplying acetyl CoA to the Krebs/tricarboxylic acid cycle.  High-energy electrons are generated and carried by NADH and FADH2 to the electron transport or respiratory chain.  A complex series of reactions produces ATP and water in the presence of oxygen though energy gradients generated at complexes I, III, and IV across complex V.

Jun 30, 2008 Comments: 0
by mtarsi

 

Jun 30, 2008 Comments: 0
by mtarsi

Jun 30, 2008 Comments: 0

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