Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and ataxia with cerebellar atrophy, and some patients showed leukoencephalopathy or spinal cord atrophy on MRI scans. Validated mutations were located at highly conserved residues among different species and segregated with the disease in each family. Nerve conduction studies showed axonal sensorimotor neuropathy. Sural nerve biopsies showed chronic axonal degeneration with a marked loss of large and medium myelinated fibres. An immunohistochemical assay with an anti-COA7 antibody in the sural nerve from the control patient showed the positive expression of COA7 in the cytoplasm of Schwann cells. We also observed mildly elevated serum creatine kinase levels in all patients and the presence of a few ragged-red fibres and some cytochromec oxidase-negative fibres in a muscle biopsy obtained from one patient, which was suggestive of subclinical mitochondrial myopathy. M...
Source: Brain - Category: Neurology Source Type: research

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ConclusionLicensing policies for older drivers should be rigorously evaluated, taking into account the safety of older unprotected road users, and should be balanced against it.
Source: Accident Analysis and Prevention - Category: Accident Prevention Source Type: research
Publication date: Available online 7 January 2020Source: Nano EnergyAuthor(s): Xinming Fan, Guorong Hu, Bao Zhang, Xing Ou, Jiafeng Zhang, Wengao Zhao, Haiping Jia, Lianfeng Zou, Peng Li, Yong YangAbstractNi-rich layered oxides are extensively employed as a promising cathode material in lithium ion batteries (LIBs) due to their high energy density and reasonable cost. However, the hiearchical strcuture of secondary particles with grain boundaries inevitably induces the structural collapse and severe electrode/electrolyte interface parasitic reactions as the intergranular crack arises from the anisotropic shrink and expansi...
Source: Nano Energy - Category: Nanotechnology Source Type: research
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Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
Publication date: Available online 18 January 2020Source: Food HydrocolloidsAuthor(s): Eftychios Apostolidis, Ioanna MandalaAbstractHigh amylose (HA) maize starch, rich in amylose (more than 55%), belongs to the category of resistant starch type 2 (RS2), and therefore has a specific structure resistant to digestion. The purpose of this study was to modify HA maize starch, reducing its particle size. A mechanical treatment was used, applying high-pressure homogenization (HPH) at different pressure conditions 140, 200 and 250 MPa and treatment cycles, ranging from 1 to 4. The impact of HPH on starch structure, including si...
Source: Food Hydrocolloids - Category: Food Science Source Type: research
In this study, we established a continuous epithelial cell line, named PT cell, from the pig tonsil. This cell is susceptible to JEV. We determined the growth characteristics, molecular properties, microstructure profiles of PT cell. JEV is easy to enter PT cell which may partly explain the reason of persist infection. We further determined that LMAN2L, a mannose lectin proteins, is the primary viral receptors for JEV entry in PT cell. IFITM3, an cellular surface antiviral factor, is underexpression in PT cell after JEV infection. All these results provide solid evidence that PT cell will promote additional research on JEV...
Source: Veterinary Microbiology - Category: Veterinary Research Source Type: research
This study aimed to statistically optimize the covalent immobilization of Candida rugosa lipase (CRL) onto a ternary support comprised of OPFL derived nanocellulose (NC) and montmorillonite (MMT) in alginate (ALG) (CRL-ALG/NC/MMT). The coarser topology and the presence of characteristic spherical globules in the field emission scanning electron micrographs and atomic force micrographs, respectively, supported the existence of CRL on ALG/NC/MMT. In addition, amide peaks at 3478 and 1640 cm-1 in the fourier transform infrared spectra affirmed that CRL was covalently bonded to ALG/NC/MMT. The optimized Taguchi Design-a...
Source: Enzyme and Microbial Technology - Category: Biotechnology Source Type: research
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Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
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Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
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Source: Sensors and Actuators B: Chemical - Category: Chemistry Source Type: research
In this study for the synthesis of zinc and chromium co-doped calcium hydroxyapatite (Ca10(PO4)6(OH)2:Zn,Cr; CHAp:Zn,Cr) an aqueous sol-gel processing has been used. The substitution effects on the sinterability, phase purity and morphological properties of CHAp:Zn, Cr were investigated in the present work. The proposed synthesis route is suitable for the preparation of monophasic calcium hydroxyapatite doped with zinc and chromium up to 7%. Single-phase CHAp:Zn, Cr samples were immersed into simulated body fluid (SBF) solution for one month. The formation of low crystalline CHAp in SBF possibly via dissolution-precipitati...
Source: Journal of Solid State Chemistry - Category: Chemistry Source Type: research
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