scholarly journals Linking Lysosomal Enzyme Targeting Genes and Energy Metabolism with Altered Gray Matter Volume in Children with Persistent Stuttering

2020 ◽  
Vol 1 (3) ◽  
pp. 365-380
Author(s):  
Ho Ming Chow ◽  
Emily O. Garnett ◽  
Hua Li ◽  
Andrew Etchell ◽  
Jorge Sepulcre ◽  
...  
Keyword(s):  
Gene Expression ◽  
Energy Metabolism ◽  
Gray Matter ◽  
Lysosomal Enzyme ◽  
Neurodevelopmental Disorder ◽  
Gray Matter Volume ◽  
Expression Patterns ◽  
Spatial Relationship ◽  
Matter Volume ◽  
Enzyme Targeting

Developmental stuttering is a childhood onset neurodevelopmental disorder with an unclear etiology. Subtle changes in brain structure and function are present in both children and adults who stutter. It is a highly heritable disorder, and 12–20% of stuttering cases may carry a mutation in one of four genes involved in intracellular trafficking. To better understand the relationship between genetics and neuroanatomical changes, we used gene expression data from the Allen Institute for Brain Science and voxel-based morphometry to investigate the spatial correspondence between gene expression patterns and differences in gray matter volume between children with persistent stuttering ( n = 26, and 87 scans) and their fluent peers ( n = 44, and 139 scans). We found that the expression patterns of two stuttering-related genes ( GNPTG and NAGPA) from the Allen Institute data exhibited a strong positive spatial correlation with the magnitude of between-group gray matter volume differences. Additional gene set enrichment analyses revealed that genes whose expression was highly correlated with the gray matter volume differences were enriched for glycolysis and oxidative metabolism in mitochondria. Because our current study did not examine the participants’ genomes, these results cannot establish the direct association between genetic mutations and gray matter volume differences in stuttering. However, our results support further study of the involvement of lysosomal enzyme targeting genes, as well as energy metabolism in stuttering. Future studies assessing variations of these genes in the participants’ genomes may lead to increased understanding of the biological mechanisms of the observed spatial relationship between gene expression and gray matter volume.

scholarly journals Linking lysosomal enzyme targeting genes and energy metabolism with altered gray matter volume in children with persistent stuttering

2019 ◽  
Author(s):  
Ho Ming Chow ◽  
Emily O. Garnett ◽  
Hua Li ◽  
Andrew Etchell ◽  
Jorge Sepulcre ◽  
...  
Keyword(s):  
Gene Expression ◽  
Gray Matter ◽  
Structural Changes ◽  
Neurodevelopmental Disorder ◽  
Gray Matter Volume ◽  
Expression Patterns ◽  
High Energy ◽  
Energy Utilization ◽  
Matter Volume ◽  
Heritable Disorder

AbstractDevelopmental stuttering is a childhood onset neurodevelopmental disorder with an unclear etiology. Subtle changes in brain structure and function are present in both children and adults who stutter. It is a highly heritable disorder, and up to 12-20% of stuttering cases may carry a mutation in one of four genes involved in mannose-6-phosphate mediated protein intracellular trafficking. To better understand the relationship between genetic factors and brain structural changes, we used gene expression data from the Allen Institute for Brain Science (AIBS) and voxel-based morphometry (VBM) to investigate the spatial correspondence between gene expression patterns and differences in gray matter volume (GMV) between children with persistent stuttering (n=26, 87 scans) and their fluent peers (n=44, 139 scans). We found that expression patterns of two stuttering-related genes (GNPTG and NAGPA) in the brain exhibit a strong positive spatial correlation with the magnitude of GMV differences between groups. Further gene set enrichment analyses revealed that genes whose expression was highly correlated with the GMV differences were enriched for glycolysis and oxidative metabolism in mitochondria. Although the results are correlational and cannot inform us about underlying casual mechanisms, our results suggest a possibility that regions with high expression level of genes associated with stuttering may be particularly vulnerable to the effect of alterations in these genes. This effect may be further exacerbated by the relatively high energy utilization in those brain during the period of a sharp increase in brain energy utilization, which coincides with a period of rapid language development and the onset of stuttering during childhood.

scholarly journals Association Between Gray Matter Volume Variations and Energy Utilization in the Brain: Implications for Developmental Stuttering

2021 ◽  
pp. 1-8
Author(s):  
Nathaniel Boley ◽  
Sanath Patil ◽  
Emily O. Garnett ◽  
Hua Li ◽  
Diane C. Chugani ◽  
...  
Keyword(s):  
Energy Metabolism ◽  
Gray Matter ◽  
Right Hemisphere ◽  
Gray Matter Volume ◽  
High Energy ◽  
Energy Utilization ◽  
Matter Volume ◽  
Developmental Stuttering ◽  
The Brain ◽  
Structural Anomalies

Purpose The biological mechanisms underlying developmental stuttering remain unclear. In a previous investigation, we showed that there is significant spatial correspondence between regional gray matter structural anomalies and the expression of genes linked to energy metabolism. In the current study, we sought to further examine the relationship between structural anomalies in the brain in children with persistent stuttering and brain regional energy metabolism. Method High-resolution structural MRI scans were acquired from 26 persistent stuttering and 44 typically developing children. Voxel-based morphometry was used to quantify the between-group gray matter volume (GMV) differences across the whole brain. Group differences in GMV were then compared with published values for the pattern of glucose metabolism measured via F 18 fluorodeoxyglucose uptake in the brains of 29 healthy volunteers using positron emission tomography. Results A significant positive correlation between GMV differences and F 18 fluorodeoxyglucose uptake was found in the left hemisphere (ρ = .36, p < .01), where speech-motor and language processing are typically localized. No such correlation was observed in the right hemisphere (ρ = .05, p = .70). Conclusions Corroborating our previous gene expression studies, the results of the current study suggest a potential connection between energy metabolism and stuttering. Brain regions with high energy utilization may be particularly vulnerable to anatomical changes associated with stuttering. Such changes may be further exacerbated when there are sharp increases in brain energy utilization, which coincides with the developmental period of rapid speech/language acquisition and the onset of stuttering during childhood. Supplemental Material https://doi.org/10.23641/asha.14110454

Gray matter volume reduction reflects chronic pain in trigeminal neuralgia

2012 ◽  
Vol 43 (01) ◽  
Author(s):  
M Obermann ◽  
R Rodriguez-Raecke ◽  
S Nägel ◽  
D Holle ◽  
N Theysohn ◽  
...  
Keyword(s):  
Chronic Pain ◽  
Trigeminal Neuralgia ◽  
Gray Matter ◽  
Gray Matter Volume ◽  
Volume Reduction ◽  
Matter Volume

scholarly journals Topographic patterns of white matter hyperintensities are associated with multimodal neuroimaging biomarkers of Alzheimer’s disease

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Malo Gaubert ◽  
Catharina Lange ◽  
Antoine Garnier-Crussard ◽  
Theresa Köbe ◽  
Salma Bougacha ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
White Matter ◽  
Glucose Metabolism ◽  
Corpus Callosum ◽  
Gray Matter ◽  
Fdg Pet ◽  
White Matter Hyperintensities ◽  
Gray Matter Volume ◽  
Matter Volume

Abstract Background White matter hyperintensities (WMH) are frequently found in Alzheimer’s disease (AD). Commonly considered as a marker of cerebrovascular disease, regional WMH may be related to pathological hallmarks of AD, including beta-amyloid (Aβ) plaques and neurodegeneration. The aim of this study was to examine the regional distribution of WMH associated with Aβ burden, glucose hypometabolism, and gray matter volume reduction. Methods In a total of 155 participants (IMAP+ cohort) across the cognitive continuum from normal cognition to AD dementia, FLAIR MRI, AV45-PET, FDG-PET, and T1 MRI were acquired. WMH were automatically segmented from FLAIR images. Mean levels of neocortical Aβ deposition (AV45-PET), temporo-parietal glucose metabolism (FDG-PET), and medial-temporal gray matter volume (GMV) were extracted from processed images using established AD meta-signature templates. Associations between AD brain biomarkers and WMH, as assessed in region-of-interest and voxel-wise, were examined, adjusting for age, sex, education, and systolic blood pressure. Results There were no significant associations between global Aβ burden and region-specific WMH. Voxel-wise WMH in the splenium of the corpus callosum correlated with greater Aβ deposition at a more liberal threshold. Region- and voxel-based WMH in the posterior corpus callosum, along with parietal, occipital, and frontal areas, were associated with lower temporo-parietal glucose metabolism. Similarly, lower medial-temporal GMV correlated with WMH in the posterior corpus callosum in addition to parietal, occipital, and fontal areas. Conclusions This study demonstrates that local white matter damage is correlated with multimodal brain biomarkers of AD. Our results highlight modality-specific topographic patterns of WMH, which converged in the posterior white matter. Overall, these cross-sectional findings corroborate associations of regional WMH with AD-typical Aß deposition and neurodegeneration.

scholarly journals Voxel-based correlation of 18F-THK5351 accumulation and gray matter volume in the brain of cognitively normal older adults

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yoko Shigemoto ◽  
Daichi Sone ◽  
Miho Ota ◽  
Norihide Maikusa ◽  
Masayo Ogawa ◽  
...  
Keyword(s):  
Older Adults ◽  
Gray Matter ◽  
Gray Matter Volume ◽  
Cognitively Normal ◽  
Matter Volume ◽  
The Brain

CHARACTERIZATION OF COGNITIVE PERFORMANCE, GRAY MATTER VOLUME AND WHITE MATTER MICROSTRUCTURE IN COGNITIVELY UNIMPAIRED ADULTS WITH INSOMNIA SYMPTOMS

2019 ◽  
Vol 15 (7) ◽  
pp. P207-P209
Author(s):  
Oriol Grau-Rivera ◽  
Grégory Operto ◽  
Carles Falcon ◽  
Raffaele Cacciaglia ◽  
Gonzalo Sánchez-Benavides ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Performance ◽  
Gray Matter ◽  
Gray Matter Volume ◽  
Matter Volume ◽  
White Matter Microstructure ◽  
Insomnia Symptoms
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