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Updated: Jun 25, 2026
Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
Published on: June 26, 2013
Gradiente de conectoma alterado y su asociación con perfiles de expresión génica en pacientes con MELAS con episodios
Rong Wang1,2, Qingyun Yu1,3, Chong Sun4
1From the Department of Radiology (R.W., Q.Y., X.L., B.H., L.Y., D.G., Y.L.), Huashan Hospital, Fudan University, Shanghai, 200040, China.
Background And Purpose:
Hierarchy is a fundamental principle of network organization in the human brain. Functional gradient introduces a new perspective in identifying hierarchy alterations by capturing major axes of functional connectivity (FC) in lowdimensional space. However, whether this gradient structure is disrupted in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients with stroke-like episodes (SLE) and how this disruption modulated by gene expression profiles remain unknow.
Materials And Methods:
Thirty-one MELAS patients at acute stage (MELAS-acute) and 31 healthy controls (HC) underwent restingstate functional magnetic resonance imaging (rs-fMRI) scan. Based on the whole-brain voxel-wise FC patterns, functional gradient values were generated and group-averaged gradient values were further extracted and compared from global to voxel level. Combined with the Allen Human Brain Atlas, we then assessed the spatial correlations between MELAS-related gradient alterations and gene expression profiles.
Results:
Relative to the HC, MELAS-acute patients exhibited global alterations in the principal gradient, including reduced gradient range and gradient variation. In addition, patients showed lower gradient values in the default mode network (DMN) but higher values in the ventral attention network (VAN) and sensorimotor network (SMN) at network and voxel level. Furthermore, we established a link between MELAS-acute related principal gradient and gene expression profiles, with two gene sets mainly enriched in mitochondrion, neuron, glutamatergic synapse, and ATPase activity.
Conclusions:
These results highlight the connectome gradient alterations in MELAS patients at acute stage and its linkage with gene expression profiles, providing insight into the neurobiological basis of functional alterations during the acute SLE stage in MELAS.
Abbreviations:
AHBA = Allen Human Brain Atlas; DMN = default mode network; FPN = frontoparietal network; GO = Gene ontology; HC = healthy controls; MELAS = mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MELAS-acute = MELAS patients at acute stage; MNI = Montreal Neurological Institute; SLE = stroke-like episodes; SMN = sensorimotor network; VAN = ventral attention network; VN = visual network.
