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Related Concept Videos

Pyruvate Oxidation01:15

Pyruvate Oxidation

After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
Overview of Fatty Acid Metabolism01:28

Overview of Fatty Acid Metabolism

Lipids also are sources of energy that power cellular processes. Like carbohydrates, lipids are composed of carbon, hydrogen, and oxygen, but these atoms are arranged differently. Most lipids are nonpolar and hydrophobic. Major types include fats and oils, waxes, phospholipids, and steroids.
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
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Electron Transport Chain: Complex I and II01:46

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The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Mitochondrial fatty acid oxidation defects--remaining challenges.

Niels Gregersen1, Brage S Andresen, Christina B Pedersen

  • 1Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark. nig@ki.au.dk

Journal of Inherited Metabolic Disease
|October 7, 2008
PubMed
Summary
This summary is machine-generated.

Mitochondrial fatty acid oxidation defects, like medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, remain challenging. Ongoing research seeks to answer complex questions about genetic variations and their synergistic effects in these rare disorders.

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Oxygen-Independent Assays to Measure Mitochondrial Function in Mammals
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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Mitochondrial fatty acid oxidation defects have been identified since the 1970s, with a consistent discovery rate of 3-4 new disorders per decade.
  • This presentation focuses on three established defects: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenation (RR-MAD) deficiency, and short-chain acyl-CoA dehydrogenase (SCAD) deficiency.

Discussion:

  • Despite extensive research, significant questions persist regarding the pathophysiology and clinical presentation of MCAD, RR-MAD, and SCAD deficiencies.
  • Key challenges include understanding the genotype-phenotype correlation in MCAD deficiency, elucidating the complex mechanisms in RR-MAD deficiency involving ETFDH gene variations, and determining the disease association of ACADS gene variations in SCAD deficiency.

Key Insights:

  • The prevalence of the ACADM gene variation c.985A > G in symptomatic MCAD deficiency patients (80%) versus screened newborns (50%) remains a critical question.
  • Investigating the link between ETFDH gene variations and deficiencies in mitochondrial dehydrogenases, FAD, and coenzyme Q(10) is crucial for understanding RR-MAD deficiency.
  • Further research is needed to determine if ACADS gene variations contribute to SCAD deficiency, particularly when interacting with other genetic or environmental factors.

Outlook:

  • New methodologies and continued research are essential to address the remaining challenges in these mitochondrial disorders.
  • Understanding the synergistic effects of genetic and environmental factors will be key to fully elucidating the pathogenesis of SCAD deficiency.
  • Continued investigation into the precise mechanisms underlying these defects will improve diagnostic and therapeutic strategies for patients.