Identification and functional characterisation of a rare MTTP variant underlying familial non-alcoholic fatty liver disease

Study ID Alternative Stable ID Type
EGAS00001005254 Other

Study Description

We identified a rare causal variant in MTTP, c.1691T>C p.I564T (rs745447480) encoding microsomal triglyceride transfer protein (MTP) causing progressive non-alcoholic fatty liver disease with cirrhosis and hepatocellular carcinoma unrelated to metabolic syndrome, without manifestations of abetalipoproteinemia, in a four generation family with South Asian ancestry. Variant-expressing hepatocyte-like-cells (HLCs) derived from human induced pluripotent stem cells generated from homozygous donor skin fibroblasts had lower lipoprotein ApoB secretion, compared to wild type cells. Cytoplasmic triglyceride accumulation in HLCs triggered endoplasmic reticulum stress, secretion of pro-inflammatory mediators, production of reactive oxygen species, delineating the progression of disease associated with homozygosity for MTTP p.I564T

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Exome sequences of three unrelated individuals of south Asian ancestry from the EXCEED study
Illumina HiSeq 2000 3

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