Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

Goh, Suzanne; Dong, Zhengchao; Zhang, Yudong; DiMauro, Salvatore; Peterson, Bradley S.

doi:10.1001/jamapsychiatry.2014.179

Cited by 153 publications

(115 citation statements)

References 35 publications

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“…Indeed, OXPHOS dysfunction is a common phenotype observed in cells depleted of MICOS subunits (19,25,26,46). In this sense, it is worth to mention that recent studies based on magnetic resonance brain imaging spectrometry strongly suggest that OXPHOS function is also impaired in psychiatric patients (47,48).…”

Section: (G-h)mentioning

confidence: 99%

Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation

et al. 2016

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Disrupted in Schizophrenia-1 (DISC1) has been associated with a broad spectrum of mental disorders. DISC1 is a multicompartmentalized protein found in the cytoplasm, centrosome, nuclei and mostly enriched in mitochondria. In order to shed light on DISC1 mitochondrial function, we have studied its topology within the organelle. We show in here that in mammals DISC1 resides in the 'Mitochondrial contact site and Cristae Organizing system' (MICOS) complex, involved in cristae organization. DISC1 knockdown in SH-SY5Y cells causes MICOS disassembly and fragmentation of the mitochondrial morphology network. Moreover, DISC1 depleted cells have decreased mitochondrial DNA (mtDNA) content and steady state levels of oxidative phosphorylation (OXPHOS) subunits. As a consequence, OXPHOS complexes and supercomplexes are partially disassembled in DISC1 knockdown cells, which suffer severe bioenergetic defects, evidenced by impaired oxygen consumption, adenosine triphosphate synthesis and mitochondrial membrane potential. Transfection of recombinant full-length human DISC1 restores MICOS complex assembly and rescues OXPHOS function, meanwhile overexpression of the DISC1 truncated form D597-854, known to be pathogenic, fails to rescue the bioenergetic impairment caused by DISC1 knockdown. These results should contribute to reveal DISC1 physiological function and potential pathogenic role in severe mental illnesses.

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Section: (G-h)mentioning

confidence: 99%

Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation

et al. 2016

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“…r 1 and r 2 are uniformly distributed random variables within range [0,1]. c 1 and c 2 are positive constant parameters called "acceleration coefficients" [47].…”

Section: Algorithm -Psomentioning

confidence: 99%

“…Magnetic resonance imaging (MRI) is a low-risk, fast, non-invasive imaging technique that produces high quality images of the anatomical structures of the human body, especially in the brain, and provides rich information for clinical diagnosis and biomedical research [1]. Soft tissue structures are clearer and more detailed with MRI than other imaging modalities [2].…”

Section: Introductionmentioning

confidence: 99%

Pathological Brain Detection in Magnetic Resonance Imaging Scanning by Wavelet Entropy and Hybridization of Biogeography-Based Optimization and Particle Swarm Optimization

Zhang¹,

Wang²,

Dong³

et al. 2015

PIER

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110

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Abstract-(Background)We proposed a novel computer-aided diagnosis (CAD) system based on the hybridization of biogeography-based optimization (BBO) and particle swarm optimization (PSO), with the goal of detecting pathological brains in MRI scanning. (Method) The proposed method used wavelet entropy (WE) to extract features from MR brain images, followed by feed-forward neural network (FNN) with training method of a Hybridization of BBO and PSO (HBP), which combined the exploration ability of BBO and exploitation ability of PSO. (Results) The 10 repetition of k-fold cross validation result showed that the proposed HBP outperformed existing FNN training methods and that the proposed WE + HBP-FNN outperformed fourteen state-of-the-art CAD systems of MR brain classification in terms of classification accuracy. The proposed method achieved accuracy of 100%, 100%, and 99.49% over respectively. The offline learning cost 208.2510 s for Dataset-255, and merely 0.053s for online prediction. (Conclusion) The proposed WE + HBP-FNN method achieves nearly perfect detection pathological brains in MRI scanning.

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“…It remains a hot topic to develop novel systems for automatic pre-clinical diagnosis for magnetic resonance (MR) images [1][2][3]. Traditional manual methods are costly, tedious, time-consuming, and irreproducible, due to the tremendous and massive amount of data.…”

Section: Introductionmentioning

confidence: 99%

Preliminary research on abnormal brain detection by wavelet-energy and quantum- behaved PSO

Zhang

Yang

et al. 2016

THC

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Abstract. It is important to detect abnormal brains accurately and early. The wavelet-energy (WE) was a successful feature descriptor that achieved excellent performance in various applications; hence, we proposed a WE based new approach for automated abnormal detection, and reported its preliminary results in this study. The kernel support vector machine (KSVM) was used as the classifier, and quantum-behaved particle swarm optimization (QPSO) was introduced to optimize the weights of the SVM. The results based on a 5 × 5-fold cross validation showed the performance of the proposed WE + QPSO-KSVM was superior to "DWT + PCA + BP-NN", "DWT + PCA + RBF-NN", "DWT + PCA + PSO-KSVM", "WE + BPNN", "WE + KSVM", and "DWT + PCA + GA-KSVM" w.r.t. sensitivity, specificity, and accuracy. The work provides a novel means to detect abnormal brains with excellent performance.

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Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

Cited by 153 publications

References 35 publications

Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation

Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation

Pathological Brain Detection in Magnetic Resonance Imaging Scanning by Wavelet Entropy and Hybridization of Biogeography-Based Optimization and Particle Swarm Optimization

Preliminary research on abnormal brain detection by wavelet-energy and quantum- behaved PSO

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