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  2. Mitochondrial disease - Wikipedia

    en.wikipedia.org/wiki/Mitochondrial_disease

    Human mitochondrial DNA encodes 13 proteins of the respiratory chain, while most of the estimated 1,500 proteins and components targeted to mitochondria are nuclear-encoded. Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia , dementia , hypertension , lymphoma ...

  3. SDHA - Wikipedia

    en.wikipedia.org/wiki/SDHA

    The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. SDHA contains the FAD binding site where succinate is deprotonated and converted to fumarate. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome.

  4. Respiratory complex I - Wikipedia

    en.wikipedia.org/wiki/Respiratory_complex_I

    NAD + to NADH. FMN to FMNH 2. CoQ to CoQH 2.. Complex I is the first enzyme of the mitochondrial electron transport chain.There are three energy-transducing enzymes in the electron transport chain - NADH:ubiquinone oxidoreductase (complex I), Coenzyme Q – cytochrome c reductase (complex III), and cytochrome c oxidase (complex IV). [1]

  5. Short-chain acyl-coenzyme A dehydrogenase deficiency

    en.wikipedia.org/wiki/Short-chain_acyl-coenzyme...

    Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids. Low levels of this enzyme halt short-chain fatty acids from being further broken down and processed in the mitochondria, consequently, these short-chain fatty acids are not converted into energy.

  6. SDHB - Wikipedia

    en.wikipedia.org/wiki/SDHB

    Figure 1: Function of the SDHB protein.Electrons are transferred from the Citric Acid Cycle to the Respiratory Chain. Electron path is shown by red arrows. The SDH complex is located on the inner membrane of the mitochondria and participates in both the Citric Acid Cycle and Respiratory chain.

  7. MT-TD - Wikipedia

    en.wikipedia.org/wiki/MT-TD

    MT-TD mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain, also known as cytochrome c oxidase deficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple body parts, including skeletal muscles, the heart, the brain, or the liver.

  8. MT-TK - Wikipedia

    en.wikipedia.org/wiki/MT-TK

    MT-TK mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain, also known as the cytochrome c oxidase deficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles , the heart , the brain , or the liver .

  9. Supercomplex - Wikipedia

    en.wikipedia.org/wiki/Supercomplex

    Modern biological research has revealed strong evidence that the enzymes of the mitochondrial respiratory chain assemble into larger, supramolecular structures called supercomplexes, instead of the traditional fluid model of discrete enzymes dispersed in the inner mitochondrial membrane. These supercomplexes are functionally active and ...