ABCMdb

ABCA1 p.Leu1097Pro

Predicted by SNAP2:	A: D (66%), C: N (53%), D: D (91%), E: D (85%), F: D (63%), G: D (85%), H: D (80%), I: N (66%), K: D (80%), M: N (72%), N: D (80%), P: D (91%), Q: D (75%), R: D (85%), S: D (80%), T: D (75%), V: N (61%), W: D (75%), Y: D (71%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Subfraction analysis of circulating lipoproteins i... Clin Chim Acta. 2016 Jan 15;452:167-72. doi: 10.1016/j.cca.2015.11.021. Epub 2015 Nov 23. Murano T, Yamaguchi T, Tatsuno I, Suzuki M, Noike H, Takanami T, Yoshida T, Suzuki M, Hashimoto R, Maeno T, Terai K, Tokuyama W, Hiruta N, Schneider WJ, Bujo H
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.
Clin Chim Acta. 2016 Jan 15;452:167-72. doi: 10.1016/j.cca.2015.11.021. Epub 2015 Nov 23., [PMID:26616730]

Abstract [show]
Tangier disease, characterized by low or absent high-density lipoprotein (HDL), is a rare hereditary lipid storage disorder associated with frequent, but not obligatory, severe premature atherosclerosis due to disturbed reverse cholesterol transport from tissues. The reasons for the heterogeneity in atherogenicity in certain dyslipidemias have not been fully elucidated. Here, using high-performance liquid chromatography with a gel filtration column (HPLC-GFC), we have studied the lipoprotein profile of a 17-year old male patient with Tangier disease who to date has not developed manifest coronary atherosclerosis. The patient was shown to be homozygous for a novel mutation (Leu1097Pro) in the central cytoplasmic region of ATP-binding cassette transporter A1 (ABCA1). Serum total and HDL-cholesterol levels were 59mg/dl and 2mg/dl, respectively. Lipoprotein electrophoretic analyses on agarose and polyacrylamide gels showed the presence of massively abnormal lipoproteins. Further analysis by HPLC-GFC identified significant amounts of lipoproteins in low-density lipoprotein (LDL) subfractions. The lipoprotein particles found in the peak subfraction were smaller than normal LDL, were rich in triglycerides, but poor in cholesterol and phospholipids. These findings in an adolescent Tangier patient suggest that patients in whom these triglyceride-rich, cholesterol- and phospholipid-poor LDL-type particles accumulate over time, would experience an increased propensity for developing atherosclerosis.

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Sentences [show]
No. Sentence Comment
3 The patient was shown to be homozygous for a novel mutation (Leu1097Pro) in the central cytoplasmic region of ATP-binding cassette transporter A1 (ABCA1). Login to comment
71 The patient had a novel homozygous T to C nucleotide substitution in exon 23 resulting in Leu1097Pro. Login to comment
80 Gene analysis Direct sequencing of the ABCA1 gene in comparison to a reference sequence (NM_005502) showed that the patient had a novel homozygous T to C nucleotide substitution in exon 23, resulting in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)] (Fig. 2). Login to comment
119 The nucleotide substitution results in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)]. Login to comment