Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

Stefano, Maria Egle De; Ferretti, Valentina; Mozzetta, Chiara

doi:10.1016/j.nbd.2022.105718

Cited by 13 publications

(9 citation statements)

References 248 publications

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“…Among these cascades, oxytocin signalling pathway, circadian entrainment and hippo signalling pathway‐multiple species seemed to be intimately associated with exosomal miRNAs in DCM with CHF. Furthermore, previous studies have demonstrated that RAS signalling pathway, axon guidance and glutamatergic synapse also strongly associated with the physiological and pathophysiological processes of DCM 32–34 …”

Section: Resultsmentioning

confidence: 98%

Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure

Zhang

et al. 2023

J Cellular Molecular Medi

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Section: Resultsmentioning

confidence: 98%

Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure

Zhang

et al. 2023

J Cellular Molecular Medi

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“…Thus, it has been observed, for example, that people with DMD have reduced implicit learning, probably because of alterations in the cerebellar circuits. 81,82 The additional loss of Dp140, important in the development of dendrites and neuronal differentiation during the fetal stage, could explain some findings in some patients with DMD, such as astrogliosis, altered white matter, abnormal patterns in the development of dendrites, and arborization. 83 Moreover, Dp71 could also play a role in neuronal differentiation 84 and, with Dp140, could participate in cerebral vasculature and perfusion through specialized processes in the feet of perivascular astrocytes, 16,19,84 which would explain the cerebral hypoperfusion found in DMD.…”

Section: Discussionmentioning

confidence: 99%

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis

Pascual‐Morena

Cavero‐Redondo

Álvarez‐Bueno

et al. 2022

Develop Med Child Neuro

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Aim To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71. Method Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta‐analyses of IDD prevalence and prevalence ratios of the IDD–genotype association were conducted. Results Forty‐nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0–11.0), and in DMD it was 22.0% (18.0–27.0). Meta‐analyses of IDD–genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28–0.64) and 0.17 (0.09–0.34) for Dp140+/Dp71+ versus Dp140−/Dp71+ and Dp140+/Dp71+ versus Dp140−/Dp71− comparisons respectively. However, in BMD, there was no association for Dp140+/Dp71+ versus Dp140−/Dp71+. Interpretation There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD. What this paper adds The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427−/Dp140+/Dp71+, Dp427−/Dp140−/Dp71+, and Dp427−/Dp140−/Dp71− genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.

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“…A difference between the human and mouse conditions cannot be ruled out. However, the lack of genotype identification in the human study did not allow for confirmation that the observed change was specifically due to the lack of Dp427, rather than being influenced by a cumulative deficiency of several dystrophins inducing additional reorganizations of synaptic networks [ 41 , 42 ]. Moreover, the focused analysis of the prefrontal cortex in the patient study does not provide information as to whether this could be generalized to other brain structures investigated in mice, and an apparent influence of aging on the measurements in patients suggests that additional adaptive factors were involved.…”

Section: Discussionmentioning

confidence: 99%

Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse

Zarrouki

Goutal

Vacca

et al. 2022

IJMS

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Duchenne muscular dystrophy (DMD) is a neurodevelopmental disorder primarily caused by the loss of the full-length Dp427 dystrophin in both muscle and brain. The basis of the central comorbidities in DMD is unclear. Brain dystrophin plays a role in the clustering of central gamma-aminobutyric acid A receptors (GABAARs), and its loss in the mdx mouse alters the clustering of some synaptic subunits in central inhibitory synapses. However, the diversity of GABAergic alterations in this model is still fragmentary. In this study, the analysis of in vivo PET imaging of a benzodiazepine-binding site radioligand revealed that the global density of central GABAARs is unaffected in mdx compared with WT mice. In contrast, semi-quantitative immunoblots and immunofluorescence confocal imaging in tissue sections revealed complex and differential patterns of alterations of the expression levels and/or clustered distribution of a variety of synaptic and extrasynaptic GABAAR subunits in the hippocampus, cerebellum, cortex, and spinal cord. Hence, dystrophin loss not only affects the stabilization of synaptic GABAARs but also influences the subunit composition of GABAARs subtypes at both synaptic and extrasynaptic sites. This study provides new molecular outcome measures and new routes to evaluate the impact of treatments aimed at compensating alterations of the nervous system in DMD.

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Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

Cited by 13 publications

References 248 publications

Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure

Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis

Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse

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