PMID- 10198255
OWN - NLM
STAT- MEDLINE
DCOM- 19990524
LR  - 20220310
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 257
IP  - 2
DP  - 1999 Apr 13
TI  - A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and
      cutaneous amyloidosis.
PG  - 584-8
AB  - An American kindred was found to have hereditary amyloidosis with cutaneous and
      cardiac involvement. Characterization of fibrils isolated from skin identified
      the amyloid protein as the N-terminal 90 to 100 residues of apolipoprotein A-1.
      Sequence of the apolipoprotein A-1 gene was normal except for a G/C transversion 
      at position 1638 which predicts an Arg to Pro substitution at residue 173. This
      mutation, unlike previously described amyloidogenic mutations is not in the
      N-terminal fragment which is incorporated into the fibril. The mutation is at the
      same residue as in apolipoprotein A-1 Milano (Arg173Cys) which does not result in
      amyloid formation. Decreased plasma HDL cholesterol levels in carriers of the
      Arg173Pro mutation suggest an increased rate of catabolism as has been shown for 
      the amyloidogenic Gly26Arg mutation. This suggests that altered metabolism caused
      by the mutation may be a significant factor in apolipoprotein A-1
      fibrillogenesis.
CI  - Copyright 1999 Academic Press.
FAU - Hamidi Asl, K
AU  - Hamidi Asl K
AD  - Department of Medical & Molecular Genetics, Indiana University School of
      Medicine, Indianapolis, Indiana, USA.
FAU - Liepnieks, J J
AU  - Liepnieks JJ
FAU - Nakamura, M
AU  - Nakamura M
FAU - Parker, F
AU  - Parker F
FAU - Benson, M D
AU  - Benson MD
LA  - eng
SI  - GENBANK/AF148963
GR  - DK 42111/DK/NIDDK NIH HHS/United States
GR  - DK 49596/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Amyloid)
RN  - 0 (Apolipoprotein A-I)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amino Acid Substitution
MH  - Amyloid/chemistry/metabolism
MH  - Amyloidosis/*genetics/metabolism/pathology
MH  - Apolipoprotein A-I/chemistry/*genetics/metabolism
MH  - Cardiomyopathies/*genetics/metabolism/pathology
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Weight
MH  - Myocardium/*metabolism/pathology
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - Skin/*metabolism/pathology
MH  - Skin Diseases/*genetics/metabolism/pathology
MH  - United States
EDAT- 1999/04/13 00:00
MHDA- 1999/04/13 00:01
CRDT- 1999/04/13 00:00
PHST- 1999/04/13 00:00 [pubmed]
PHST- 1999/04/13 00:01 [medline]
PHST- 1999/04/13 00:00 [entrez]
AID - S0006-291X(99)90518-1 [pii]
AID - 10.1006/bbrc.1999.0518 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Apr 13;257(2):584-8. doi:
      10.1006/bbrc.1999.0518.