http://austinpublishinggroup.com/proteomics/
TangierDisease (TD) is a rare inherited disorder with approximately 100 worldwide
identified cases. Alpha-lipoprotein deficiency is the main characteristic of
this disease, associated with a virtual absence of High Density Lipoproteins
(HDL) in blood. Additional symptoms are mild hypertriglyceridemia, neuropathy
and enlarged, orange-colored tonsils. Genetically TD is caused by mutations in
the ABCA1 gene, which prevent the release of cholesterol and phospholipids from
cells, leading to the accumulation of lipids within cells and body tissues. In this work a TD patient and his
parental heterozygous were examined from a proteomics point of view. Plasma as
well as proteome and secretome of circulating monocytes were analyzed.
Plasma
proteins underlined in TD the imbalance of lipid trafficking and metabolism,
associated with the stimulation of pro-inflammatory pathways. Proteome and
secretome of monocytes highlighted an extensive down regulation of
mitochondrial enzymes and vesicular trafficking agents along with a substantial
cytoskeletal rearrangement, suggesting a reduced activation state of monocytes
from TD homozygous patient.This work is the first proteomics profiling of
heterozygous and homozygous TD phenotypes and it suggests a TD case as a model
to understand general mechanisms of lipid transport and metabolism and their
linkage to inflammatory processes.
Keywords: Tangier disease;
Protemics profiling; Monocyte proteomics; Rare disease
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