Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.

Scientific Reports
Roberto BonelliMarcus Fruttiger

Abstract

Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown, and no treatment is currently available. A previous study found variants in genes associated with glycine-serine metabolism (PSPH, PHGDH and CPS1) to be associated with MacTel, and showed low levels of glycine and serine in the serum of MacTel patients. Recently, a causative role of deoxysphingolipids in MacTel disease has been established. However, little is known about possible other metabolic dysregulation. Here we used a global metabolomics platform in a case-control study to comprehensively profile serum from 60 MacTel patients and 58 controls. Analysis of the data, using innovative computational approaches, revealed a detailed, disease-associated metabolic profile with broad changes in multiple metabolic pathways. This included alterations in the levels of several metabolites that are directly or indirectly linked to glycine-serine metabolism, further validating our previous genetic findings. We also found changes unrelated to PSPH, PHGDH and CPS1 activity. Most pronounced, levels of several lipid groups were al...Continue Reading

References

Jan 1, 1986·Archives of Ophthalmology·E Y ChewS L Fine
Jun 27, 2000·The Journal of Nutrition·C C Metges
Dec 16, 2003·European Journal of Human Genetics : EJHG·Maria Veiga-da-CunhaEmile Van Schaftingen
Jan 18, 2006·Analytical Chemistry·Sabina BijlsmaAge K Smilde
Jul 1, 2008·Investigative Ophthalmology & Visual Science·Traci E ClemonsUNKNOWN Macular Telangiectasia Research Group
Oct 23, 2008·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Goro KikuchiKoichi Hiraga
Nov 11, 2008·Investigative Ophthalmology & Visual Science·Robert P FingerHendrik P N Scholl
Jul 9, 2010·American Journal of Ophthalmology·Ronald KleinBarbara E K Klein
Jul 9, 2010·Bioinformatics·Di WuGordon K Smyth
Oct 13, 2010·Proceedings of the National Academy of Sciences of the United States of America·Enrica StrettoiRiccardo Ghidoni
Sep 3, 2011·Nature·Karsten SuhreChristian Gieger
Oct 15, 2011·Molecular & Cellular Proteomics : MCP·Roman FischerBenedikt M Kessler
Sep 7, 2012·PloS One·Nancy L ParmaleeUNKNOWN MacTel Project
Nov 16, 2012·Journal of Lipid Research·Megan M YoungHong-Gang Wang
Dec 12, 2012·Progress in Retinal and Eye Research·Peter Charbel IssaHendrik P N Scholl
Mar 21, 2013·Ophthalmic Epidemiology·Traci E ClemonsUNKNOWN Macular Telangiectasia Project Research Group
Jun 19, 2013·Ophthalmology·Michael B PownerMarcus Fruttiger
Dec 20, 2013·Retina·Tjebo F C HeerenPeter Charbel Issa
May 13, 2014·Nature Genetics·So-Youn ShinNicole Soranzo
Oct 21, 2014·PloS One·Jennifer K FredianiThomas R Ziegler
Nov 19, 2014·ACS Chemical Biology·Jing FanJoshua D Rabinowitz
Jan 22, 2015·Nucleic Acids Research·Matthew E RitchieGordon K Smyth
Mar 24, 2015·Frontiers in Bioengineering and Biotechnology·Arnald AlonsoAntonio Julià
Aug 1, 2015·Investigative Ophthalmology & Visual Science·L Goodwin BurgessMilam A Brantley
Aug 19, 2015·Scientific Reports·Chia-Lang HsuHsuan-Cheng Huang
Mar 17, 2016·Nature Reviews. Molecular Cell Biology·Caroline H JohnsonGary Siuzdak
Apr 26, 2016·Nature Chemical Biology·Michael E PacoldDavid M Sabatini
Apr 30, 2016·Nature Communications·Abigail S KrallHeather R Christofk
May 22, 2016·Diabetes Care·Marta Guasch-FerréFrank B Hu
Nov 4, 2016·Nature Reviews. Endocrinology·Peter J Meikle, Scott A Summers
Jan 28, 2017·Scientific Reports·Michiru NishitaYasuhiro Minami
Oct 13, 2017·Nature·UNKNOWN GTEx ConsortiumStephen B Montgomery

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Citations

Dec 4, 2020·International Journal of Molecular Sciences·Janusz BlasiakKai Kaarniranta
Aug 11, 2021·Investigative Ophthalmology & Visual Science·Yedi ZhouYun Li

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Methods Mentioned

BETA
RNAseq

Software Mentioned

MacTel
Psych
ROAST
limma
R
Metabolon

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