Mutations in KERA, encoding keratocan, cause cornea plana

Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population. The gene mutated in CNA2 was assigned by linkage analysis to 12q (refs 4, 5), where there is a cluster of several SLRP genes. We cloned two additional SLRP genes highly expressed in cornea: KERA (encoding keratocan) in 12q and OGN (encoding osteoglycin) in 9q. Here we report mutations in KERA in 47 CNA2 patients: 46 Finnish patients are homozygous for a founder missense mutation, leading to the substitution of a highly conserved amino acid; and one American patient is homozygous for a mutation leading to a premature stop codon that truncates the KERA protein. Our data establish that mutations in KERA cause CNA2. CNA1 patients had no mutations in these proteoglycan genes.     

Über Seuchenzüge bei pflanzlichen Infektionskrankheiten

Summary For the initiation of an epidemic with a tendency to become wide-spread, various conditions must be fulfilled in the vegetable kingdom. Factors which can lead to such an epidemic are the same as in epidemic diseases in humans and concern the host, causative agents and environmental factors.     

Perfluoroalkyl substances in the blood samples from a male population of Sweden

Temporal trends of perfluoroalkyl substances （PFASs） have been determined in the blood samples from several countries globally including a female population in Sweden recently, yet little is known about the time trends in the blood levels of these compounds in Swedish male populations over recent years. In this study, the fourteen target PFASs consisted of four perfluorosulfonates （PFSAs） and ten perfluorocarboxylates （PFCAs） in the whole blood samples, collected from 153 Swedish elderly men during the period between 2008 and 2010, were analyzed via ultra-performance liquid chromatography-tandem mass spectrometry （UPLC-MS/MS）. As the dominant PFASs contaminants in the blood samples, perfluorooctane sulfo- nate （PFOS） showed the highest geometric mean （GM） at 8.5 ng/mL, ranging from 1.7 to 29 ng/mL, while blood perfluorooctanoic acid （PFOA） contained the GM of 1.8 ng/mL, ranging from 0.35 to 6.4 ng/mL. Both the levels of these two compounds were lower than those determined in the blood samples of Swedish elderly pop- ulations derived from the late 1990s. According to the temporal trend analysis, over the three years, the blood levels of PFOS in Swedish male populations declined 16 % per annum, while those of perfluoroundecanoic acid （PFUnDA） increased 6.1% per annum, which were con- sistent with those reported previously for the populations from other countries.     

Developments in biotechnology

This issue of EXPERIENTIA on ‘Developments in Biotechnology’ is dedicated to Professor Armin Fiechter who celebrated his 65th birthday in October. He is one of the most eminent promoters of biotechnology in Switzerland and he was instrumental in establishing the Institute for Biotechnology at ETH in 1982 of which he is still director. By pioneering the combination of fundamental and applied aspects he has greatly influenced the advancement of biotechnology in teaching and research in Switzerland. Distinguished scientists from various countries were invited to contribute to this special issue of EXPERIENTIA to review aspects of yeast physiology, process optimization and control, analytics, and applications. We are well aware that the articles presented here are only a narrow selection of the current activities in biotechnology but since Professor Fiechter has devoted most of his scientific career to research on yeast physiology, process development and instrumentation it is appropriate to focus this issue on these aspects. We thank all the authors who have contributed to mark this special event. Professor Fiechter continues to actively stimulate progress in biotechnology with a still lively awareness of future developments. May he continue to persue his objectives and, together with Mrs. Fiechter, enjoy the time to come.     

Compte rendu des publications

Cellular and Molecular Life Sciences -