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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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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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Related Experiment Video

Updated: Jun 25, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Multisystem manifestations of mitochondrial disorders.

Stefano Di Donato1

  • 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano via Celoria 11, Milan 20133, Italy. didonato@istituto-besta.it

Journal of Neurology
|March 3, 2009
PubMed
Summary

Mitochondrial disorders, often genetic, impair cellular energy production. This review explores these conditions focusing on symptoms beyond the brain and nerves, impacting organs like the heart and liver.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondria are vital organelles in eukaryotic cells, crucial for energy production (oxidative phosphorylation) and cell signaling.
  • Impaired mitochondrial function, often due to genetic mutations in mitochondrial DNA or nuclear DNA, leads to diverse clinical conditions known as mitochondrial disorders.
  • These disorders exhibit extreme heterogeneity, ranging from specific tissue damage (e.g., optic nerve) to widespread systemic pathologies affecting muscles, nerves, brain, and heart.

Purpose of the Study:

  • To review mitochondrial diseases with significant manifestations outside the central nervous system and neuromuscular system.
  • To highlight clinical presentations in organs such as the heart, endocrine system, liver, kidney, blood, and gastrointestinal tract.
  • To summarize current knowledge on genotype-phenotype correlations and underlying pathogenic mechanisms.

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Main Methods:

  • Literature review of scientific articles and clinical studies on mitochondrial disorders.
  • Analysis of reported cases focusing on extra-neuromuscular manifestations.
  • Synthesis of information regarding genetic causes, clinical phenotypes, and pathomechanisms.

Main Results:

  • Mitochondrial disorders present a wide spectrum of clinical features affecting various organs.
  • Significant impact on the heart, endocrine, hepatic, renal, hematologic, and gastrointestinal systems is observed.
  • Genotype-phenotype correlations are being elucidated, providing insights into disease mechanisms.

Conclusions:

  • Mitochondrial disorders are complex genetic diseases with diverse systemic implications.
  • Understanding extra-neuromuscular manifestations is crucial for comprehensive diagnosis and management.
  • Further research into genotype-phenotype correlations will refine therapeutic strategies.