ABCMdb

PMID: 19556721

Koseki M, Matsuyama A, Nakatani K, Inagaki M, Nakaoka H, Kawase R, Yuasa-Kawase M, Tsubakio-Yamamoto K, Masuda D, Sandoval JC, Ohama T, Nakagawa-Toyama Y, Matsuura F, Nishida M, Ishigami M, Hirano K, Sakane N, Kumon Y, Suehiro T, Nakamura T, Shimomura I, Yamashita S
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations.
J Atheroscler Thromb. 2009 Jun;16(3):292-6. Epub 2009 Jun 25., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCA1 p.Ala255Thr He was found to be homozygous for a mutation at G1158A (Ala255Thr) of the ABCA1 gene7) . Login to comment 29 ABCA1 p.Asn935His This patient was heterozygous for an Asn935His mutation; however, the other mutation in the ABCA1 gene has not been identified yet. Case 4 was diagnosed with homozygous TD in 2002. Login to comment 33 ABCA1 p.Asn935His This patient was homozygous for a mutation at A3198C (Asn935His)9) . Login to comment 36 ABCA1 p.Asn935His ABCA1 p.Asn935His ABCA1 p.Asn935His ABCA1 p.Ala255Thr Clinical characteristics of Japanese patients with Tangier disease and normal subjects Case 1 Case 2 Case 3 Case 4 Normal (n =123) ABCA1 mutations Ala255Thr Arg1851Stop Asn935His/N.D.＊ Asn935His Age (years)/Sex (M/F) BMI (kg/m2 ) Fasting plasma glucose (mg/dL) Fasting plasma insulin (μU/mL) HbA1c (%) Total cholesterol (mg/dL) HDL-cholesterol (mg/dL) Triglycerides (mg/dL) 54M 24.6 163 4.0 5.8 35 0＊＊ 395 71F - 180 4.0 7.9 59 6.0 162 44M 23.5 180 3.0 - 64 2.5 272 74M 22.4 176 4.26 6.1 69 3.5 42 55.3±6.9 (M94/F29) 23.4±0.8 93.8±6.9 5.1±3.0 4.7±0.3 198.3±31.1 52.2±14.1 127.0±92.1 Coronary artery disease (＋) (＋) Sudden death (＋) 3VD, CABG (-) 3VD: triple vessel disease, CABG: coronary artery bypass graft surgery Data are the means±SD. ＊ N.D.: The other mutation has not been identified so far. ＊＊ Less than sensitivity subjects. Login to comment