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Mitochondrial threshold effect is a phenomenon where the number of mutated mtDNA has surpassed a certain threshold which causes the electron transport chain and ATP synthesis of a mitochondrion to fail. There isn't a set number that needs to be surpassed, however, it is associated with an increase of the number of mutated mtDNA. When there is 60-80% of mutated mtDNA present, that is said to be the threshold level. While 60-80% is the general threshold level, this is also dependent on the individual, the specific organ in question and what the specific mutation is. There are three specific types of mitochondrial threshold effects: phenotypic threshold effect, biochemical threshold effect and translational threshold effect.

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  • Mitochondrial threshold effect is a phenomenon where the number of mutated mtDNA has surpassed a certain threshold which causes the electron transport chain and ATP synthesis of a mitochondrion to fail. There isn't a set number that needs to be surpassed, however, it is associated with an increase of the number of mutated mtDNA. When there is 60-80% of mutated mtDNA present, that is said to be the threshold level. While 60-80% is the general threshold level, this is also dependent on the individual, the specific organ in question and what the specific mutation is. There are three specific types of mitochondrial threshold effects: phenotypic threshold effect, biochemical threshold effect and translational threshold effect. Threshold expression is a phenomenon in which phenotypic expression of a mitochondrial disease within an organ system occurs when the severity of the mutation, relative number of mutant mtDNA, and reliance of the organ system on oxidative phosphorylation combine in such a way that ATP production of the tissue falls below the level required by the tissue. The phenotype may be expressed even if the percentage of mutant mtDNA is below 50% if the mutation is severe enough. (en)
  • Поріг експресії — це явище, в якому фенотипічний прояв мітохондріальних захворювань відбувається у системах органів, коли ступінь тяжкості мутації, відносне число мутантних мтДНК і залежність систем органів від окисного фосфорилювання поєднуються таким чином, що синтез АТФ у тканини падає нижче рівня, якого вони потребують. Фенотипічний прояв може спостерігатися навіть якщо відсоток мутантних мтДНК нижче 50%, у разі якщо мутація є досить серйозною. (uk)
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  • Поріг експресії — це явище, в якому фенотипічний прояв мітохондріальних захворювань відбувається у системах органів, коли ступінь тяжкості мутації, відносне число мутантних мтДНК і залежність систем органів від окисного фосфорилювання поєднуються таким чином, що синтез АТФ у тканини падає нижче рівня, якого вони потребують. Фенотипічний прояв може спостерігатися навіть якщо відсоток мутантних мтДНК нижче 50%, у разі якщо мутація є досить серйозною. (uk)
  • Mitochondrial threshold effect is a phenomenon where the number of mutated mtDNA has surpassed a certain threshold which causes the electron transport chain and ATP synthesis of a mitochondrion to fail. There isn't a set number that needs to be surpassed, however, it is associated with an increase of the number of mutated mtDNA. When there is 60-80% of mutated mtDNA present, that is said to be the threshold level. While 60-80% is the general threshold level, this is also dependent on the individual, the specific organ in question and what the specific mutation is. There are three specific types of mitochondrial threshold effects: phenotypic threshold effect, biochemical threshold effect and translational threshold effect. (en)
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  • Threshold expression (en)
  • Поріг експресії (uk)
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