Confirmation That MAT1A p.Ala259Val Mutation Causes Autosomal Dominant Hypermethioninemia

Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p.Ala259Val substitution and provide evidence of autosomal dominant inheritance by showing both maternal inheritance of the mutation and concomitant hypermethioninemia. The p.Ala259Val mutation falls in the dimer interface, and thus likely leads to dominant inheritance by a similar mechanism to that described in the previously reported dominant negative mutation, that is, by means of interference with subunits encoded by the wild-type allele

CATS Near Real Time Data Products: Applications for Assimilation Into the NASA GEOS-5 AGCM

From February 2015 through October 2017, the NASA Cloud-Aerosol Transport System (CATS) backscatter lidar operated on the International Space Station (ISS) as a technology demonstration for future Earth Science Missions, providing vertical measurements of cloud and aerosols properties. Owing to its location on the ISS, a cornerstone technology demonstration of CATS was the capability to acquire, process, and disseminate near-real time (NRT) data within 6 hours of observation time. CATS NRT data has several applications, including providing notification of hazardous events for air traffic control and air quality advisories, field campaign flight planning, as well as for constraining cloud and aerosol distributions in via data assimilation in aerosol transport models. Recent developments in aerosol data assimilation techniques have permitted the assimilation of aerosol optical thickness (AOT), a 2-dimensional column integrated quantity that is reflective of the simulated aerosol loading in aerosol transport models. While this capability has greatly improved simulated AOT forecasts, the vertical position, a key control on aerosol transport, is often not impacted when 2-D AOT is assimilated. Here, we present preliminary efforts to assimilate CATS aerosol observations into the NASA Goddard Earth Observing System version 5 (GEOS-5) atmospheric general circulation model and assimilation system using a 1-D Variational (1-D VAR) ensemble approach, demonstrating the utility of CATS for future Earth Science Missions

CATS Version 2 Aerosol Feature Detection and Applications for Data Assimilation

The Cloud Aerosol Transport System (CATS) lidar has been operating onboard the International Space Station (ISS) since February 2015 and provides vertical observations of clouds and aerosols using total attenuated backscatter and depolarization measurements. From February March 2015, CATS operated in Mode 1, providing backscatter and depolarization measurements at 532 and 1064 nm. CATS began operation in Mode 2 in March 2015, providing backscatter and depolarization measurements at 1064 nm and has continued to operate to the present in this mode. CATS level 2 products are derived from these measurements, including feature detection, cloud aerosol discrimination, cloud and aerosol typing, and optical properties of cloud and aerosol layers. Here, we present changes to our level 2 algorithms, which were aimed at reducing several biases in our version 1 level 2 data products. These changes will be incorporated into our upcoming version 2 level 2 data release in summer 2017. Additionally, owing to the near real time (NRT) data downlinking capabilities of the ISS, CATS provides expedited NRT data products within 6 hours of observation time. This capability provides a unique opportunity for supporting field campaigns and for developing data assimilation techniques to improve simulated cloud and aerosol vertical distributions in models. We additionally present preliminary work toward assimilating CATS observations into the NASA Goddard Earth Observing System version 5 (GEOS-5) global atmospheric model and data assimilation system