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Neuroimaging in mitochondrial disorders.

Mario Mascalchi1,2, Martino Montomoli3, Renzo Guerrini4,5

  • 1Neuroradiology Research Unit, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

Essays in Biochemistry
|July 22, 2018
PubMed
Summary
This summary is machine-generated.

Magnetic Resonance Imaging (MRI) and proton magnetic resonance spectroscopy (¹HMRS) reveal central nervous system (CNS) abnormalities in mitochondrial diseases. These neuroimaging techniques aid in diagnosing and understanding the pathophysiology of CNS damage in these disorders.

Keywords:
NMR spectroscopymitochondrial dysfunctionneuroimaging

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Area of Science:

  • Neuroimaging
  • Mitochondrial Diseases
  • Neurology

Background:

  • Magnetic Resonance Imaging (MRI) and proton magnetic resonance spectroscopy (¹HMRS) are primary neuroimaging modalities for studying mitochondrial diseases.
  • These methods assess central nervous system (CNS) abnormalities, including atrophy, signal changes, and leukoencephalopathy, which can present variably.

Purpose of the Study:

  • To summarize the role of MRI and ¹HMRS in diagnosing and understanding CNS damage in mitochondrial diseases.
  • To highlight the diagnostic utility of ¹HMRS in detecting lactate peaks indicative of respiratory chain failure.
  • To emphasize the potential of MRI and ¹HMRS as surrogate biomarkers for therapeutic trials.

Main Methods:

  • Review of MRI findings in mitochondrial diseases, cataloging seven elementary CNS abnormalities.
  • Application of ¹HMRS to detect lactate accumulation in affected tissues and cerebrospinal fluid.
  • Discussion of the in vivo assessment of tissue abnormalities, perfusion, and metabolic derangements.

Main Results:

  • MRI can show diverse patterns of CNS abnormalities, sometimes exceeding classical clinical-pathological correlations.
  • ¹HMRS is crucial for diagnosing mitochondrial encephalopathy, particularly in acute phases, by identifying elevated lactate levels.
  • Studies correlating MRI findings with genotype are limited but would benefit from data pooling.

Conclusions:

  • MRI and ¹HMRS provide critical insights into the pathophysiology of CNS damage in mitochondrial diseases.
  • These non-invasive techniques are valuable for in vivo assessment of disease-related changes.
  • MRI and ¹HMRS are anticipated to be essential surrogate biomarkers in future therapeutic investigations for mitochondrial diseases.