Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.

ABSTRACT:

Background

Familial hypobetalipoproteinaemia (FHBL) is a codominant disorder characterised by fatty liver and reduced plasma levels of low-density lipoprotein (LDL) and its protein constituent apolipoprotein B (apoB). FHBL is linked to the APOB gene in some but not all known cases. In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25.

Objective

To assess the effects of these mutations on apoB pre-mRNA splicing.

Methods

ApoB mRNA was analysed in the liver of one proband and in cells expressing APOB minigenes harbouring the mutations found in the other probands.

Results

In the liver of the c.3843-2A-->G carrier, an apoB

SUBMITTER: Di Leo E 

PROVIDER: S-EPMC2598025 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature