Journal article
Serine and lipid metabolism in macular disease and peripheral neuropathy
ML Gantner, K Eade, M Wallace, MK Handzlik, R Fallon, J Trombley, R Bonelli, S Giles, S Harkins-Perry, TFC Heeren, L Sauer, Y Ideguchi, M Baldini, L Scheppke, MI Dorrell, M Kitano, BJ Hart, C Cai, T Nagasaki, MG Badur Show all
New England Journal of Medicine | MASSACHUSETTS MEDICAL SOC | Published : 2019
Abstract
BACKGROUND Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism has been established previously. METHODS Through exome sequence analysis of a patient with macular telangiectasia type 2 and his family members, we identified a variant in SPTLC1 encoding a subunit of serine palmitoyltransferase (SPT). Because mutations affecting SPT are known to cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), we examined 10 additional persons with HSAN1 for ophthalmologic disease. We assayed serum amino acid and sphingoid base levels, including leve..
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Awarded by National Cancer Institute
Funding Acknowledgements
Supported by the Lowy Medical Research Institute, with supplementary funding from the National Health and Medical Research Council of Australia (to Dr. Bahlo), a core grant from the National Eye Institute (EY14800, to Dr. Bernstein), the University of Melbourne Research Scholarship Program (to Mr. Bonelli), a grant from the National Science Foundation (1454425, to Dr. Metallo), and a grant from the National Institutes of Health (NCI R01CA188652, to Dr. Metallo). Heidelberg Engineering provided a Heidelberg Spectralis confocal imaging system to Dr. Bernstein free of charge for use in this study.