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Disease Report for: Lipoatrophic diabetes

Alternative name(s)|
Mutation|2 mutations: G430R_human-EPHX1, T333P_human-EPHX1
OMIM: |32810, 132810

Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs of diabetes. Some genes involved Congenital Generalized Lipodystrophy (CGL2,3,4) BSCL2, CAV1 AGPAT2, CAVIN1. Two de novo variants located in EPHX1 catalytic site in patients with a lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. Metreleptin therapy had a beneficial effect in one patient showed that the high activity haplotype T/A (tyr113/his139) was significantly overrepresented in the preeclampsia group (P = 0.01; odds ratio 1.61, 95% CI, 1.12-2.32)

    Title: EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
    Gautheron J, Morisseau C, Chung WK, Zammouri J, Auclair M, Baujat G, Capel E, Moulin C, Wang Y and Jeru I <7 more author(s)>
    Ref: Elife, 10:, 2021 : PubMed


    Title: Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia
    Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D
    Ref: Biochimica & Biophysica Acta, 1638:208, 2003 : PubMed


    Title: Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia
    Laasanen J, Romppanen EL, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S
    Ref: Eur J Hum Genet, 10:569, 2002 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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