Clarification of the pathology of adrenoleukodystrophy

2014 Fiscal Year Final Research Report

• Project/Area Number: 24659492
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: SHIMOZAWA Nobuyuki 岐阜大学, 生命科学総合研究支援センター, 教授 (00240797)
• Co-Investigator(Renkei-kenkyūsha): TAKASHIMA Shigeo 岐阜大学, 生命科学総合研究支援センター, 助教 (50537610)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 副腎白質ジストロフィー / 脱髄 / 副腎機能不全 / 疾患モデル / マイクロアレイ

Outline of Final Research Achievements

We have established diagnostic system for the patients with adrenoleukodystrophy (ALD), using combined GC/MS and UPLC/MS, and diagnosed 49 male patients with ALD, including 21 with childhood cerebral form, 2 with adolescent cerebral form, 6 with adult cerebral form, 6 with adrenomyeloneuropathy, 2 with cerebello-brainstem form, 4 with Addison form and 8 with presymptomatic, and 41 female carriers. In order to elucidate the regulatory factors of various phenotypes in ALD, we have established multiple analysis system, which consists of lipidomics by LC/MS/MS and transcriptomics by microarray, using bio-resource from different phenotypes of ALD patients and ABCD1-deficient mice. We identify several factors related to phenotypes, and verify the relation, using a large number of samples from the patients.

Free Research Field

先天代謝異常