A Metabolic Vulnerability of Vision

被引:1
作者
Tyynismaa, Henna [1 ]
机构
[1] Univ Helsinki, Fac Med, Stem Cells & Metab Res Program, Helsinki, Finland
关键词
SERINE PALMITOYLTRANSFERASE; HEREDITARY; MUTATIONS;
D O I
10.1056/NEJMe1910322
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
New therapies targeting metabolic vulnerabilities of specific tumor types have created wide interest in recent years. Through research now reported in the Journal by Gantner et al.,(1) metabolic precision therapy may become possible in patients with a rare eye disease, macular telangiectasia type 2, which leads to a progressive loss of central vision in both eyes in middle-aged or older persons.(2) The macula is the small area in the back of the eye that is responsible for high-resolution (i.e., sharp) vision. In the center of the macula is the fovea, which has the highest density of cone photoreceptor cells and . . .
引用
收藏
页码:1474 / 1476
页数:3
相关论文
共 12 条
  • [1] Auranen M, 2017, COLD SPRING HARB MOL, V3, pa002212
  • [2] Targeting a ceramide double bond improves insulin resistance and hepatic steatosis
    Chaurasia, Bhagirath
    Tippetts, Trevor S.
    Monibas, Rafael Mayoral
    Liu, Jinqi
    Li, Ying
    Wang, Liping
    Wilkerson, Joseph L.
    Sweeney, C. Rufus
    Pereira, Renato Felipe
    Sumida, Doris Hissako
    Maschek, J. Alan
    Cox, James E.
    Kaddai, Vincent
    Lancaster, Graeme Iain
    Siddique, Monowarul Mobin
    Poss, Annelise
    Pearson, Mackenzie
    Satapati, Santhosh
    Zhou, Heather
    McLaren, David G.
    Previs, Stephen F.
    Chen, Ying
    Qian, Ying
    Petrov, Aleksandr
    Wu, Margaret
    Shen, Xiaolan
    Yao, Jun
    Nunes, Christian N.
    Howard, Andrew D.
    Wang, Liangsu
    Erion, Mark D.
    Rutter, Jared
    Holland, William L.
    Kelley, David E.
    Summers, Scott A.
    [J]. SCIENCE, 2019, 365 (6451) : 386 - +
  • [3] Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2 A Randomized Clinical Trial
    Chew, Emily Y.
    Clemons, Traci E.
    Jaffe, Glenn J.
    Johnson, Charles A.
    Farsiu, Sina
    Lad, Eleonora M.
    Guymer, Robyn
    Rosenfeld, Philip
    Hubschman, Jean-Pierre
    Constable, Ian
    Wiley, Henry
    Singerman, Lawrence J.
    Gillies, Mark
    Comer, Grant
    Blodi, Barbara
    Eliott, Dean
    Yan, Jiong
    Bird, Alan
    Friedlander, Martin
    [J]. OPHTHALMOLOGY, 2019, 126 (04) : 540 - 549
  • [4] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    Dawkins, JL
    Hulme, DJ
    Brahmbhatt, SB
    Auer-Grumbach, M
    Nicholson, GA
    [J]. NATURE GENETICS, 2001, 27 (03) : 309 - 312
  • [5] Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
    Fridman, Vera
    Suriyanarayanan, Saranya
    Novak, Peter
    David, William
    Macklin, Eric A.
    McKenna-Yasek, Diane
    Walsh, Kailey
    Aziz-Bose, Razina
    Oaklander, Anne Louise
    Brown, Robert
    Hornemann, Thorsten
    Eichler, Florian
    [J]. NEUROLOGY, 2019, 92 (04) : E359 - E370
  • [6] Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy
    Gantner, Marin L.
    Eade, Kevin
    Wallace, Martina
    Handzlik, Michal K.
    Fallon, Regis
    Trombley, Jennifer
    Bonelli, Roberto
    Giles, Sarah
    Harkins-Perry, Sarah
    Heeren, Tjebo F. C.
    Sauer, Lydia
    Ideguchi, Yoichiro
    Baldini, Michelle
    Scheppke, Lea
    Dorrell, Michael I.
    Kitano, Maki
    Hart, Barbara J.
    Cai, Carolyn
    Nagasaki, Takayuki
    Badur, Mehmet G.
    Okada, Mali
    Woods, Sasha M.
    Egan, Catherine
    Gillies, Mark
    Guymer, Robyn
    Eichler, Florian
    Bahlo, Melanie
    Fruttiger, Marcus
    Allikmets, Rando
    Bernstein, Paul S.
    Metallo, Christian M.
    Friedlander, Martin
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (15) : 1422 - 1433
  • [7] Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1
    Garofalo, Kevin
    Penno, Anke
    Schmidt, Brian P.
    Lee, Ho-Joon
    Frosch, Matthew P.
    von Eckardstein, Arnold
    Brown, Robert H.
    Hornemann, Thorsten
    Eichler, Florian S.
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2011, 121 (12) : 4735 - 4745
  • [8] Macular telangiectasia type 2
    Issa, Peter Charbel
    Gillies, Mark C.
    Chew, Emily Y.
    Bird, Alan C.
    Heeren, Tjebo F. C.
    Peto, Tunde
    Holz, Frank G.
    Scholl, Hendrik P. N.
    [J]. PROGRESS IN RETINAL AND EYE RESEARCH, 2013, 34 : 49 - 77
  • [9] Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
    Penno, Anke
    Reilly, Mary M.
    Houlden, Henry
    Laura, Matilde
    Rentsch, Katharina
    Niederkofler, Vera
    Stoeckli, Esther T.
    Nicholson, Garth
    Eichler, Florian
    Brown, Robert H., Jr.
    von Eckardstein, Arnold
    Hornemann, Thorsten
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (15) : 11178 - 11187
  • [10] INTRAVITREAL BEVACIZUMAB FOR TREATMENT OF PROLIFERATIVE AND NONPROLIFERATIVE TYPE 2 IDIOPATHIC MACULAR TELANGIECTASIA
    Roller, A. Brock
    Folk, James C.
    Patel, Narendra M.
    Boldt, H. Culver
    Russell, Stephen R.
    Abramoff, Michael D.
    Mahajan, Vinit B.
    [J]. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2011, 31 (09): : 1848 - 1855