Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in d

Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy

The primary mutation m.3460G > A occurs with a very low frequency (similar to 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G > A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G > A was substantially lower than those families with m.11778G > A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G > A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G > A compared to those LHON families with m.11778G > A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G > A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G > A might influence the penetrance of LHON in family Le688.

Mitochondrial DNA Haplogroups M7b1 ' 2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G -> A Mutation

Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published

co-creativepen toolkit: a pen-based 3d toolkit for children cooperatly designing virtual environment

Co-CreativePen Toolkit is a pen-based 3D toolkit for children cooperatly designing virtual environment. This toolkit is used to construct different applications involved with distributedpen-based 3D interaction. In this toolkit,sketch method is encapsulated as kinds of interaction techniques. Children can use pen to construct 3D and IBR objects, to navigate in the virtual world, to select and manipulate virtual objects, and to communicate with other children. Children can use pen to select other children in the virtual world, and use pen to write message to children selected The distributed architecture of Co-CreativePen Toolkit is based on the CORBA. A common scene graph is managed in the server with several copies of this graph are managed in every client.Every changes of the scene graph in client will cause the change in the server and other client.

Effective nonlinear AC response to composite with spherical particles

An effective nonlinear alternative-current (AC) response to granular nonlinear-composite with spherical inclusions embedded in a host medium under the action of an external AC field is investigated by using a perturbation approach. The local potentials of composite at higher harmonics are derived both in a region of local inclusion particles and in a local host region under the action of a sinusoidal field E-1 sin ω t + E-3 sin 3ω t. An effective nonlinear-response to composite and the relationship between the effective nonlinear-responses at the fundamental frequency and the third harmonics are also studied for the spherical inclusions in a dilute limit.

Bioenergetic responses of sub-adult sea cucumber Apostichopus japonicus (Selenka) (Echinodermata: Holothuroidea) to temperature with special discussion regarding its southernmost distribution limit in China

1. This paper investigated the bioenergetic responses of the sea cucumber Apostichopus japonicus (wet weights of 36.5 +/- 1.2 g) to different water temperatures (5, 10, 15, 20, 25 and 30 degrees C) in the laboratory. 2. Results showed that theoretically the optimal temperatures for energy intake and scope for growth (SFG) of sub-adult A. japonicus was at 15.6 and 16.0 degrees C, respectively. The aestivation threshold temperature for this life-stage sea cucumber could be 29.0 degrees C by taking feeding cessation as the indication of aestivation. 3. Our data suggests that A. japonicus is thermo-sensitive to higher temperature, which prevents it from colonising sub-tropical coastal zones. Therefore, water temperature plays an important role in its southernmost distribution limit in China. 4. The potential impact of global ocean warming on A. japonicus might be a northward shift in the geographical distribution. Crown Copyright (C) 2009 Published by Elsevier Ltd, All rights reserved.

Liquid phase oxidation of toluene to benzaldehyde with molecular oxygen over copper-based heterogeneous catalysts

We conducted the liquid phase oxidation of toluene with molecular oxygen over heterogeneous catalysts of copper-based binary metal oxides. Among the copper-based binary metal oxides, iron-copper binary oxide (Fe/Cu = 0.3 atomic ratio) was found to be the best catalyst. In the presence of pyridine, overoxidation of benzaldehyde to benzoic acid was partially prevented. As a result, highly selective formation of benzaldehyde (86% selectivity) was observed after 2 h of reaction (7% conversion of toluene) at 463 K and 1.0 MPa of oxygen atmosphere in the presence of pyridine. These catalytic performances were similar or better than those in the gas phase oxidation of toluene at reaction temperatures higher than 473 K and under 0.5-2.5 MPa. It was suggested from competitive adsorption measurements that pyridine could reduce the adsorption of benzaldehyde. At a long reaction time of 4 It, the conversion increased to 25% and benzoic acid became the predominant reaction product (72% selectivity) in the absence of pyridine. The yield of benzoic acid was higher than that in the Snia-Viscosa process, which requires corrosive halogen ions and acidic solvents in the homogeneous reaction media. The catalyst was easily recycled by simple filtration and reusable after washing and drying.