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

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.

Wavelength reused bidirectional transmission of adaptively modulated optical OFDM signals in SOA/RSOA intensity modulator-based WDM-PONs

Detailed numerical investigations are undertaken of wavelength reused bidirectional transmission of adaptively modulated optical OFDM (AMOOFDM) signals over a single SMF in a WDM-PON incorporating a SOA intensity modulator and a RSOA intensity modulator in the OLT and ONU, respectively. A comprehensive theoretical model describing the performance of such network scenarios is, for the first time, developed, taking into account dynamic optical characteristics of SOA and RSOA intensity modulators as well as the effects of Rayleigh backscattering (RB) and residual downstream signal-induced crosstalk. The developed model is rigorously verified experimentally in RSOA-based real-time end-to-end OOFDM systems at 7.5Gb/s. It is shown that the RB noise and crosstalk effects are the dominant factors limiting the maximum achievable downstream and upstream transmission performance. Under optimum SOA and RSOA operating conditions as well as practical downstream and upstream optical launch powers, 10Gb/s downstream and 6Gb/s upstream over 40km SMF transmissions of conventional double sideband AMOOFDM signals are feasible without utilizing inline optical amplification and chromatic dispersion compensation. In particular, the transmission performance can be improved to 23Gb/s downstream and 8Gb/s upstream over 40 km SMFs when single sideband subcarrier modulation is adopted in the downstream systems. Copyright © 2010 The authors.

mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation

Mitochondrial DNA background has been shown to be involved in the penetrance of Leber's hereditary optic neuropathy (LHON) in western Eurasian populations. To analyze mtDNA haplogroup distribution pattern in Han Chinese patients with LHON and G11778A muta

Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy

Co-occurrence of double pathogenic mtDNA mutations with different claimed pathological roles in one mtDNA is infrequent. It is tentative to believe that each of these pathogenic mutations would have its own deleterious effect. Here we reported one three-g

Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in Chinese

Leber hereditary optic neuropathy (LHON) was the first disease to be linked to the presence of a mitochondrial DNA (mtDNA) mutation. Nowadays over 95% of LHON cases are known to be caused by one of three primary mutations (m.11778G>A, m.14484T>C, and m.34

Theoretical investigation of CoSi2/Si1-xGex detectors: Influence of a Si tunneling barrier on the electro-optical characteristics

We present a theoretical investigation of the influence of a non-reacted Si layer on the transport and optical properties of CoSi2/Si1-xGex Schottky barrier diodes grown from Co/Si/Si1-xGex systems. The presence of this layer reduces the effect of the lowering of the Schottky barrier height which would be expected in a CoSi2/Si1-xGex. However, due to the small thickness of this Si layer, the charge carriers are able to tunnel through it. This tunneling process allows for a significant lowering of the Schottky barrier height and therefore an extension of the detection regime into the infrared. © 1996 American Institute of Physics.

Compact holographic optical interconnections using nematic liquid crystal spatial light modulators

In a fibre-optic communication network, the wavelength-division multiplexing (WDM) technique enables an expansion of the data-carrying capacity of optical fibres. This can be achieved by transmitting different channels on a single optical fibre, with each channel modulating a different wavelength. In order to access and manipulate these channels at a node of the network, a compact holographic optical switch is designed, modelled, and constructed. The structure of such a switch consists of a series of optical components which are used to collimate the beam from the input, de-multiplex each individual wavelength into separated channels, manipulate the separated channels, and reshape the beam to the output. A spatial light modulator (SLM) is crucial in this system, offering control and flexibility at the channel manipulation stage, and providing the ability to redirect light into the desired output fibre. This is achieved by the use of a 2-D analogue phase computer generated hologram (CGH) based on liquid crystal on silicon (LCOS) technology. © 2011 Copyright Society of Photo-Optical Instrumentation Engineers (SPIE).

20 Gb/s QPSK transmission using an electro-optically modulated vertical-cavity surface-emitting laser

20 Gb/s QPSK transmission over 100 m of OM3 fibre using an EOM VCSEL under QPSK modulation is reported. Bit-error-ratio measurements are carried out to express the quality of the transmission scheme. © 2011 OSA.

Patterning of crystalline organic materials by electro-hydrodynamic lithography.

The control of semi-crystalline polymers in thin films and in micrometer-sized patterns is attractive for (opto-)electronic applications. Electro-hydrodynamic lithography (EHL) enables the structure formation of organic crystalline materials on the micrometer length scale while at the same time exerting control over crystal orientation. This gives rise to well-defined micro-patterned arrays of uniaxially aligned polymer crystals. This study explores the interplay of EHL structure formation with crystal alignment and studies the mechanisms that give rise to crystal orientation in EHL-generated structures.