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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
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,...
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,...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

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 ATP...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

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...

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Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
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Endocrine disorders in mitochondrial disease.

Andrew M Schaefer1, Mark Walker, Douglass M Turnbull

  • 1Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

Molecular and Cellular Endocrinology
|June 18, 2013
PubMed
Summary

Mitochondrial diseases commonly cause endocrine dysfunction, primarily affecting the pancreas and leading to diabetes mellitus. Understanding this multi-systemic impact is crucial for managing these complex genetic disorders.

Keywords:
DiabetesEndocrineMitochondrial diseasem.3243A>GmtDNA

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Area of Science:

  • Endocrinology
  • Genetics
  • Mitochondrial Biology

Background:

  • Endocrine dysfunction is a frequent complication of mitochondrial disease, though often overlooked.
  • While pancreatic involvement leading to diabetes mellitus is most common, other endocrine glands can also be affected.
  • Mitochondrial diseases present with diverse phenotypes due to mutations in mitochondrial (mtDNA) and nuclear DNA, complicating diagnosis and management.

Purpose of the Study:

  • To provide a comprehensive overview of endocrine disorders associated with mitochondrial disease.
  • To elucidate how the specific underlying mitochondrial disorder influences clinical presentation.
  • To guide management strategies for endocrine dysfunction in the context of mitochondrial disease.

Main Methods:

  • Literature review of endocrine manifestations in mitochondrial diseases.
  • Analysis of the relationship between genotype and phenotype in endocrine dysfunction.
  • Synthesis of current understanding to inform clinical management.

Main Results:

  • Diabetes mellitus is the most prevalent endocrine manifestation, linked to pancreatic dysfunction.
  • Other endocrine disorders, while less common, are significant and diverse.
  • Neuromuscular symptoms often overshadow endocrine issues, highlighting the need for a multi-system approach.

Conclusions:

  • Endocrine dysfunction is an integral, albeit often under-recognized, component of mitochondrial disease.
  • Tailored management strategies are essential, considering the specific genetic basis and clinical phenotype.
  • Increased awareness and systematic evaluation are crucial for optimizing patient care in mitochondrial disorders.