Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models

Methods Mol Biol. 2025:2876:175-186. doi: 10.1007/978-1-0716-4252-8_12.

Abstract

Magnetic resonance imaging (MRI) techniques have emerged as powerful tools for unraveling the pathophysiology of rare diseases, mainly due to their pivotal role in early diagnosis, disease characterization, and treatment monitoring in a non-invasive manner. In this chapter, we will review two essential MRI tools used for studying and evaluating the pathophysiology of Allan-Herndon-Dudley Syndrome or MCT8 deficiency, a rare disease caused by inactivating mutations in the SLC16A2 gene, encoding for the thyroid hormone-specific transmembrane transporter MCT8. These two MRI techniques are time-of-flight magnetic resonance angiography (TOF-MRA) and diffusion tensor imaging (DTI).

Keywords: AHDS; Angiography; Axonal damage; Blood-brain barrier; Brain; Diffusion tensor imaging; MCT8; MRA; MRI; Myelin.

MeSH terms

  • Animals
  • Brain* / diagnostic imaging
  • Brain* / metabolism
  • Brain* / pathology
  • Diffusion Tensor Imaging / methods
  • Disease Models, Animal*
  • Humans
  • Magnetic Resonance Angiography / methods
  • Magnetic Resonance Imaging / methods
  • Mental Retardation, X-Linked / diagnostic imaging
  • Mental Retardation, X-Linked / genetics
  • Mental Retardation, X-Linked / metabolism
  • Mice
  • Monocarboxylic Acid Transporters* / deficiency
  • Monocarboxylic Acid Transporters* / genetics
  • Monocarboxylic Acid Transporters* / metabolism
  • Muscle Hypotonia / diagnostic imaging
  • Muscle Hypotonia / genetics
  • Muscular Atrophy / diagnostic imaging
  • Muscular Atrophy / genetics
  • Muscular Atrophy / metabolism
  • Muscular Atrophy / pathology
  • Symporters / deficiency
  • Symporters / genetics
  • Symporters / metabolism

Substances

  • Monocarboxylic Acid Transporters
  • Symporters

Supplementary concepts

  • Allan-Herndon-Dudley syndrome