Blood group A glycosphingolipid accumulation in the hair of patients with alpha-N-acetylgalactosaminidase deficiency.
In the hair of individuals with blood group AB, the level of blood group A glycosphingolipids is much lower than that of blood group B. We hypothesized that in hair, blood group A determinants are converted by alpha-N-acetylgalactosaminidase (alpha-NAGA, E.C.3.2.1.49) to H determinants. To address our hypothesis, the relative amount of ABH glycosphingolipids in hairs and nails of normal subjects, patients with Kanzaki disease, and heterozygous carriers of alpha-NAGA deficiency were analyzed by dot-blotting and enzyme-linked immunosorbent assay. In hair from normal subjects with blood group B, ABH glycosphingolipids consisted of 88% blood group B- and 12% blood group H glycosphingolipids. In blood group A subjects, 14% were group A- and 86% were group H glycosphingolipids. In Kanzaki patients, 81% were blood group A- and 19% were blood group H glycosphingolipids. In 2 alpha-NAGA deficiency carriers, the ABH glycosphingolipids consisted of 67% blood group A- and 33% blood group H glycosphingolipids. These results indicate that blood group A glycosphingolipids are catabolized to H glycosphingolipids by alpha-NAGA, resulting in lower levels of blood group A glycosphingolipids in the hair of normal subjects, and alpha-NAGA deficiency causes accumulation of blood group A glycosphingolipids in the hair of Kanzaki patients. This finding is of clinical relevance because it suggests that hair may be used to diagnose and assess the alpha-NAGA status of individuals.
Kimura
Akihiko
A
Department of Forensic Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan. legkim@wakayama-med.ac.jp
Kanekura
Takuro
T
Saito
Yoshifumi
Y
Sagawa
Kazunori
K
Nosaka
Mizuho
M
Kanzaki
Tamotsu
T
Tsuji
Tsutomu
T
D000017:ABO Blood-Group System / Q000097:blood* / Q000276:immunology / Q000378:metabolism; D000911:Antibodies, Monoclonal / Q000276:immunology; D004797:Enzyme-Linked Immunosorbent Assay; D004910:Erythrocyte Membrane / Q000378:metabolism; D006028:Glycosphingolipids / Q000378:metabolism*; D006197:Hair / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000097:blood* / Q000201:enzymology / Q000378:metabolism; D009262:Nails / Q000378:metabolism; D048809:alpha-N-Acetylgalactosaminidase / Q000172:deficiency* / Q000235:genetics
D000017:ABO Blood-Group System; D000911:Antibodies, Monoclonal; D006028:Glycosphingolipids; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase