Abstract | BACKGROUND: METHODS: We screened 14 hypocholesterolemic subjects for apoB gene mutations by PCR-SSCP and performed liver ultrasonography in a Japanese population. RESULTS: We identified an apoB-82 homozygote in one subject and an apoB-13.7 heterozygote in another subject. Four of 6 individuals with FHBL presented with fatty liver in those 2 FHBL families. Liver biopsy of the apoB-13.7 heterozygote, which had obesity and insulin resistance, showed severe fatty liver. The apoB-82 homozygote was asymptomatic with fat-soluble vitamin concentrations being normal, possibly due to spared secretion of apoB-48 from the intestine and increased plasma concentrations of high-density lipoprotein cholesterol. CONCLUSION:
ApoB gene mutations might not be rare and that fatty liver might be frequent in Japanese FHBL.
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Authors | Shoji Katsuda, Masa-Aki Kawashiri, Akihiro Inazu, Hayato Tada, Masayuki Tsuchida, Yoshibumi Kaneko, Tsuyoshi Nozue, Atsushi Nohara, Toshihide Okada, Junji Kobayashi, Ichiro Michishita, Hiroshi Mabuchi, Masakazu Yamagishi |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 399
Issue 1-2
Pg. 64-8
(Jan 2009)
ISSN: 1873-3492 [Electronic] Netherlands |
PMID | 18848826
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Apolipoproteins B
- Cholesterol, LDL
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Topics |
- Adult
- Aged
- Apolipoproteins B
(genetics, metabolism)
- Asian People
(genetics)
- Base Sequence
- Cholesterol, LDL
(genetics, metabolism)
- Fatty Liver
(diagnostic imaging, genetics, metabolism, pathology)
- Female
- Genotype
- Humans
- Hypobetalipoproteinemias
(diagnostic imaging, genetics, metabolism, pathology)
- Insulin Resistance
(genetics)
- Male
- Middle Aged
- Mutation
(genetics)
- Obesity
(genetics)
- Ultrasonography
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