Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

R S Ross; R E Gregg; S W Law; J C Monge; S M Grant; K Higuchi; T J Triche; J Jefferson; H B Brewer

doi:10.1172/JCI113357

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Ross, R. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Gregg, R. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Law, S. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Monge, J. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Grant, S. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Higuchi, K. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Triche, T. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Jefferson, J. in: PubMed | Google Scholar

Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

Find articles by Brewer, H. in: PubMed | Google Scholar

Published in Volume 81, Issue 2 on February 1, 1988
J Clin Invest. 1988;81(2):590–595. https://doi.org/10.1172/JCI113357.
© 1988 The American Society for Clinical Investigation

Published February 1, 1988 - Version history

apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. No apoB was detectable in the plasma of HBL individuals with an ELISA assay. These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein.

Images.

Version 1 (February 1, 1988): No description

Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

R S Ross, R E Gregg, S W Law, J C Monge, S M Grant, K Higuchi, T J Triche, J Jefferson, and H B Brewer Jr

Article tools

Metrics

Go to

Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

R S Ross, R E Gregg, S W Law, J C Monge, S M Grant, K Higuchi, T J Triche, J Jefferson, and H B Brewer Jr

Article tools

Metrics

Go to

Sign up for email alerts