PMID- 10330430
OWN - NLM
STAT- MEDLINE
DCOM- 19990607
LR  - 20220310
IS  - 0021-9738 (Print)
IS  - 0021-9738 (Linking)
VI  - 103
IP  - 10
DP  - 1999 May 15
TI  - Alpha-cardiac actin is a novel disease gene in familial hypertrophic
      cardiomyopathy.
PG  - R39-43
AB  - We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a
      pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage
      analyses excluded all the previously reported FHC loci as possible disease loci
      in the family studied, with lod scores varying between -2.5 and -6.0. Further
      linkage analyses of plausible candidate genes highly expressed in the adult human
      heart identified ACTC as the most likely disease gene, showing a maximal lod
      score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 
      close to 2 missense mutations recently described to cause the inherited form of
      idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene
      described in which mutations are responsible for 2 different cardiomyopathies. We
      hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and
      that mutations affecting force transmission from the sarcomere to the surrounding
      syncytium lead to IDC.
FAU - Mogensen, J
AU  - Mogensen J
AD  - Department of Cardiology, and Research Unit for Molecular Medicine, Skejby
      University Hospital, Brendstrupgaardsvej, DK-8200 Aarhus N, Denmark.
      skejjm@aau.dk
FAU - Klausen, I C
AU  - Klausen IC
FAU - Pedersen, A K
AU  - Pedersen AK
FAU - Egeblad, H
AU  - Egeblad H
FAU - Bross, P
AU  - Bross P
FAU - Kruse, T A
AU  - Kruse TA
FAU - Gregersen, N
AU  - Gregersen N
FAU - Hansen, P S
AU  - Hansen PS
FAU - Baandrup, U
AU  - Baandrup U
FAU - Borglum, A D
AU  - Borglum AD
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Invest
JT  - The Journal of clinical investigation
JID - 7802877
RN  - 0 (Actins)
RN  - 0 (DNA Primers)
SB  - IM
MH  - Actins/chemistry/*genetics/physiology
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Cardiomyopathy, Dilated/genetics
MH  - Cardiomyopathy, Hypertrophic/*genetics/pathology/physiopathology
MH  - DNA Primers/genetics
MH  - Exons
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Middle Aged
MH  - Models, Molecular
MH  - Myocardial Contraction/genetics
MH  - Pedigree
MH  - Point Mutation
MH  - Protein Conformation
PMC - PMC408458
EDAT- 1999/05/20 00:00
MHDA- 1999/05/20 00:01
CRDT- 1999/05/20 00:00
PHST- 1999/05/20 00:00 [pubmed]
PHST- 1999/05/20 00:01 [medline]
PHST- 1999/05/20 00:00 [entrez]
AID - 10.1172/JCI6460 [doi]
PST - ppublish
SO  - J Clin Invest. 1999 May 15;103(10):R39-43. doi: 10.1172/JCI6460.