2 NOVEL MISSENSE MUTATIONS IN THE ATP-BINDING DOMAIN OF THE ADRENOLEUKODYSTROPHY GENE - IMMUNOBLOTTING AND IMMUNOCYTOLOGICAL STUDY OF 2 PATIENTS

Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R ) were identified in Japanese patients with adrenoleukodystrophy (ALD) . They are located in exon 6, which encodes part of the putative adeno sine triphosphate binding domain of ALD protein. The ALD protein carry ing the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, while the Q544R mutation had no appar ent effect on the stability and localization of the ALD protein, but i s expected to affect its function.