No evidence for shared etiology in two demyelinative disorders, MS and PLOSL.
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ABSTRACT:
SUBMITTER: Sulonen AM
PROVIDER: S-EPMC2682253 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Publications
No evidence for shared etiology in two demyelinative disorders, MS and PLOSL.
Sulonen Anna-Maija AM Kallio Suvi P SP Ellonen Pekka P Suvela Minna M Elovaara Irina I Koivisto Keijo K Pirttilä Tuula T Reunanen Mauri M Tienari Pentti J PJ Palotie Aarno A Peltonen Leena L Saarela Janna J
Journal of neuroimmunology 20081118 1-2
Loss-of-function mutations of DAP12 and TREM2 cause a recessively inherited disease PLOSL, manifesting in brain white matter. The genes of the DAP12-TREM2 signaling receptor are located on 19q13.12 and 6p21.1, to which linkage has been observed also in families affected by another immune-mediated demyelinating disease, MS. We have tested if allelic variation in DAP12 or TREM2 predisposes also to MS by monitoring carrier frequency of the Finnish PLOSL mutation in Finnish MS cases and by studying ...[more]
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