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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Mitochondrial Membranes01:45

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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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Mitochondria01:37

Mitochondria

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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,...
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ATP Synthase: Mechanism01:48

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In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
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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.
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Updated: Nov 1, 2025

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Mitochondrial Disorders.

Thomas Klopstock1, Claudia Priglinger, Ali Yilmaz

  • 1Friedrich-Baur-Institute, Department of Neurology, LMU Ludwig Maximilians University of Munich; German Center for Neurodegenerative Diseases (DZNE) Munich; Munich Cluster for Systems Neurology (SyNergy); Department of Ophthalmology, University Hospital, LMU Munich; Department of Cardiology and Angiology, University Hospital Münster; Department of Neurology, University Hospital Bonn; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Hospital Düsseldorf; Institute of Neurogenomics, Helmholtz Zentrum Munich; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München (TUM).

Deutsches Arzteblatt International
|June 23, 2021
PubMed
Summary
This summary is machine-generated.

Mitochondrial disorders, common yet often undiagnosed due to varied symptoms, affect energy metabolism. Early diagnosis is key for genetic counseling and personalized treatment of these complex genetic diseases.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • Mitochondrial disorders are common heritable diseases with a lifetime risk of 1 in 1500.
  • Extreme phenotypic and genotypic heterogeneity often leads to missed diagnoses.

Purpose of the Study:

  • To review the clinical features, genetics, pathogenesis, diagnosis, and treatment of mitochondrial diseases.
  • To highlight the diagnostic challenges and therapeutic strategies for mitochondrial disorders.

Main Methods:

  • Selective literature search on mitochondrial diseases.
  • Review of publications covering clinical, genetic, and therapeutic aspects.

Main Results:

  • Over 400 genes implicated in mitochondrial disorders, with defects in nuclear DNA being most common.
  • Affected organs typically have high energy demands (brain, muscles, sensory epithelia).
  • Common manifestations include seizures, stroke-like episodes, hearing loss, retinopathy, exercise intolerance, and diabetes.

Conclusions:

  • Varied manifestations require broad medical awareness for timely diagnosis.
  • Accurate diagnosis is crucial for genetic counseling and tailored treatment of mitochondrial diseases.