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Structural lesions and transcriptomic specializations shape gradient perturbations in Wilson disease.

Sheng Hu1,2,3, Chuanfu Li4, Yanming Wang1

  • 1Department of Electronic Engineering and Information Science, Medical Imaging Center, University of Science and Technology of China, Hefei, Anhui, 230026, China.

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|October 7, 2024
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Wilson disease (WD) causes brain dysfunction due to copper buildup. This study links brain structure changes, functional gradients, and gene expression to WD, revealing insights into neurological symptoms.

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Wilson disease (WD) involves excessive copper deposition in the brain, leading to functional dysregulation.
  • The genetic basis of WD is linked to abnormal ATP7B gene expression in the liver.
  • The brain's functional and molecular mechanisms underlying WD remain largely unexplored.

Purpose of the Study:

  • To investigate functional gradient perturbations in the brain associated with structural lesions in WD.
  • To explore the transcriptomic specializations linked to altered functional gradients in WD patients.
  • To understand the neurobiological underpinnings of neurological and psychiatric phenotypes in WD.

Main Methods:

  • Structural and functional MRI scans were acquired from 105 WD patients and 93 healthy controls.
  • Diffusion mapping embedding model used to derive functional connectome gradients and analyze structure-function decoupling.
  • Neurosynth, clinical data, and whole-brain gene expression data analyzed for cognitive function, phenotypes, and transcriptomic specializations.

Main Results:

  • WD patients showed global topographic changes in the primary-to-transmodal functional gradient compared to controls.
  • Gradient alterations correlated with motor processing, cognition, neurological symptoms, and age, revealing structure-function decoupling.
  • Transcriptomic specializations in WD, related to ion homeostasis and neural development, were identified and linked to ATP7B's role in subcortical function.

Conclusions:

  • Findings bridge functional gradient perturbations and structural lesions with gene expression profiles in WD.
  • The study provides novel insights into the neurobiological mechanisms of WD, including ATP7B's impact on subcortical function.
  • Identified transcriptomic specializations in WD are associated with neurological/psychiatric disorders, suggesting shared mechanisms.