Abstract | AIM: METHODS: RESULTS: The subjects 1427 and 1078 had heterozygous loss-of-function mutations in the gene apolipoprotein B ( ApoB), and these mutations resulted in premature stop codons at amino acid 1333 (ApoB-29) and 3680 (ApoB-81), respectively. Indeed, the plasma ApoB level of subject 1427 (19 mg/dL) was the lowest and that of subject 1078 (26 mg/dL) was the second to the lowest among all the 1,441 DCCT participants. Sequencing genomic DNA of family members showed that probands 1427 and 1078 inherited the mutations from the father and the mother, respectively. CONCLUSIONS: The identification of ApoB loss-of-function mutations in type 1 diabetic patients presents innovative cases to study the interaction between hypobetalipoproteinemia and insulin deficiency.
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Authors | Feng Gao, Hao Luo, Zhiyao Fu, Chun-Ting Zhang, Ren Zhang |
Journal | Acta diabetologica
(Acta Diabetol)
Vol. 52
Issue 3
Pg. 531-7
(Jun 2015)
ISSN: 1432-5233 [Electronic] Germany |
PMID | 25430706
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Apolipoproteins B
- Codon, Nonsense
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Topics |
- Adolescent
- Adult
- Apolipoproteins B
(genetics, metabolism)
- Base Sequence
- Codon, Nonsense
- Diabetes Mellitus, Type 1
(genetics, metabolism)
- Exome
- Female
- Humans
- Hypobetalipoproteinemias
(genetics, metabolism)
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
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