Journal article

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression

Roberto Bonelli, Brendan RE Ansell, Luca Lotta, Thomas Scerri, Traci E Clemons, Irene Leung, Tunde Peto, Alan C Bird, Ferenc B Sallo, Claudia Langenberg, Melanie Bahlo

Genome Medicine: medicine in the post-genomic era | BMC | Published : 2021


BACKGROUND: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production; however, an independent vascular contribution is also suspected. Here, we use statistical genetics to dissect the causal mechanisms underpinning this complex disease. METHODS: We integrated genetic markers for MacTel, vascular and metabolic traits, and applied Mendelian randomisation and conditional and interaction genome-wide association analyses to discover the caus..

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University of Melbourne Researchers


Awarded by NHMRC

Funding Acknowledgements

We would like to acknowledge the funding support from the Lowy Medical Research Institute. This work was also made possible through the Victorian State Government Operational Infrastructure Support and Australian Government National Health and Medical Research Council (NHMRC) independent research Institute Infrastructure Support Scheme (IRIISS). RB was supported by the Melbourne International Research Scholarship. BREA was supported by an NHMRC Early Career Fellowship (1157776). MB was supported by an NHMRC Senior Research Fellowship (1102971).