AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart

K. K. Kalsi; A. H.Y. Yuen; P. H. Johnson; E. J. Birks; M. H. Yacoub; R. T. Smolenski

doi:10.1081/NCN-59721

AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart

K. K. Kalsi
, A. H.Y. Yuen
, P. H. Johnson
, E. J. Birks
, M. H. Yacoub
, R. T. Smolenski

Internal Medicine

Producción científica: Article › revisión exhaustiva

7 Citas (Scopus)

Resumen

Possession of the nonsense mutation in AMPD1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.

Idioma original	English
Páginas (desde-hasta)	287-288
Número de páginas	2
Publicación	Nucleosides, Nucleotides and Nucleic Acids
Volumen	24
N.º	4
DOI	https://doi.org/10.1081/NCN-59721
Estado	Published - 2005

ODS de las Naciones Unidas

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Good health and well being

ASJC Scopus subject areas

Biochemistry
Molecular Medicine
Genetics

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10.1081/NCN-59721

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title = "AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart",

abstract = "Possession of the nonsense mutation in AMPD1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.",

keywords = "AMP-deaminase, Adenosine, C34T Mutation, Human Heart",

author = "Kalsi, \{K. K.\} and Yuen, \{A. H.Y.\} and Johnson, \{P. H.\} and Birks, \{E. J.\} and Yacoub, \{M. H.\} and Smolenski, \{R. T.\}",

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T1 - AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart

AU - Kalsi, K. K.

AU - Yuen, A. H.Y.

AU - Johnson, P. H.

AU - Birks, E. J.

AU - Yacoub, M. H.

AU - Smolenski, R. T.

PY - 2005

Y1 - 2005

N2 - Possession of the nonsense mutation in AMPD1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.

AB - Possession of the nonsense mutation in AMPD1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism. Protective mechanism of this mutation may be thus induced by local cardiac metabolic changes.

KW - AMP-deaminase

KW - Adenosine

KW - C34T Mutation

KW - Human Heart

UR - https://www.scopus.com/pages/publications/22044450388

UR - https://www.scopus.com/pages/publications/22044450388#tab=citedBy

U2 - 10.1081/NCN-59721

DO - 10.1081/NCN-59721

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AN - SCOPUS:22044450388

SN - 1525-7770

VL - 24

SP - 287

EP - 288

JO - Nucleosides, Nucleotides and Nucleic Acids

JF - Nucleosides, Nucleotides and Nucleic Acids

IS - 4

ER -

AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart

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