PMID- 10980140
OWN - NLM
STAT- MEDLINE
DCOM- 20000929
LR  - 20220321
IS  - 0002-9440 (Print)
IS  - 1525-2191 (Electronic)
IS  - 0002-9440 (Linking)
VI  - 157
IP  - 3
DP  - 2000 Sep
TI  - Functional loss of ABCA1 in mice causes severe placental malformation, aberrant 
      lipid distribution, and kidney glomerulonephritis as well as high-density 
      lipoprotein cholesterol deficiency.
PG  - 1017-29
AB  - Tangier disease (TD) and familial HDL deficiency (FHA) have recently been linked 
      to mutations in the human ATP-binding cassette transporter 1 (hABCA1), a member 
      of the ABC superfamily. Both diseases are characterized by the lowering or lack 
      of high-density lipoprotein cholesterol (HDL-C) and low serum cholesterol. The 
      murine ABCA1-/- phenotype corroborates the human TD linkage to ABCA1. Similar to 
      TD in humans, HDL-C is virtually absent in ABCA1-/- mice accompanied by a 
      reduction in serum cholesterol and lipid deposition in various tissues. In 
      addition, the placenta of ABCA1-/- mice is malformed, resulting in severe embryo 
      growth retardation, fetal loss, and neonatal death. The basis for these defects 
      appears to be altered steroidogenesis, a direct result of the lack of HDL-C. By 6 
      months of age, ABCA1-/- animals develop membranoproliferative glomerulonephritis 
      due to deposition of immunocomplexes followed by cardiomegaly with ventricular 
      dilation and hypertrophy, ultimately succumbing to congestive heart failure. This 
      murine model of TD will be very useful in the study of lipid metabolism, renal 
      inflammation, and cardiovascular disease and may reveal previously unsuspected 
      relationships between them.
FAU - Christiansen-Weber, T A
AU  - Christiansen-Weber TA
AD  - R. W. Johnson Pharmaceutical Research Institute, San Diego, California 92121, 
      USA.
FAU - Voland, J R
AU  - Voland JR
FAU - Wu, Y
AU  - Wu Y
FAU - Ngo, K
AU  - Ngo K
FAU - Roland, B L
AU  - Roland BL
FAU - Nguyen, S
AU  - Nguyen S
FAU - Peterson, P A
AU  - Peterson PA
FAU - Fung-Leung, W P
AU  - Fung-Leung WP
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Pathol
JT  - The American journal of pathology
JID - 0370502
RN  - 0 (ABCA1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Cholesterol, HDL)
RN  - 0 (DNA Primers)
RN  - 0 (RNA, Messenger)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - ATP Binding Cassette Transporter 1
MH  - ATP-Binding Cassette Transporters/*physiology
MH  - Animals
MH  - Animals, Newborn
MH  - Blotting, Northern
MH  - Blotting, Southern
MH  - Cholesterol, HDL/blood/*deficiency
MH  - DNA/analysis
MH  - DNA Mutational Analysis
MH  - DNA Primers/chemistry
MH  - *Disease Models, Animal
MH  - Female
MH  - Fetal Death
MH  - Glomerulonephritis/*etiology/metabolism/pathology
MH  - In Situ Hybridization
MH  - Male
MH  - Mice
MH  - Mice, Knockout
MH  - Mutation
MH  - Placenta/*abnormalities/metabolism/pathology
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - RNA, Messenger/metabolism
MH  - Tangier Disease/*etiology/metabolism/pathology
PMC - PMC1885686
EDAT- 2000/09/12 11:00
MHDA- 2000/10/07 11:01
PMCR- 2001/03/01
CRDT- 2000/09/12 11:00
PHST- 2000/09/12 11:00 [pubmed]
PHST- 2000/10/07 11:01 [medline]
PHST- 2000/09/12 11:00 [entrez]
PHST- 2001/03/01 00:00 [pmc-release]
AID - S0002-9440(10)64614-7 [pii]
AID - 2324 [pii]
AID - 10.1016/S0002-9440(10)64614-7 [doi]
PST - ppublish
SO  - Am J Pathol. 2000 Sep;157(3):1017-29. doi: 10.1016/S0002-9440(10)64614-7.