Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
J Clin Invest
; 81(2): 590-5, 1988 Feb.
Article
em En
| MEDLINE
| ID: mdl-2828430
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apolipoproteínas B
/
Hipobetalipoproteinemias
/
Hipolipoproteinemias
Limite:
Female
/
Humans
Idioma:
En
Revista:
J Clin Invest
Ano de publicação:
1988
Tipo de documento:
Article