Limits...
Effect of isolated AMP deaminase deficiency on skeletal muscle function ☆

View Article: PubMed Central - PubMed

ABSTRACT

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.

No MeSH data available.


Related in: MedlinePlus

Exercise test in the endurance or sprint condition. A: Numbers of electric stimulations after sprint exercise for 30 s (n = 4). B: Numbers of electric stimulations during endurance exercise for 2.5, 5, 7.5, 10, 15, 20, 35, and 85 min (n = 9 for wild type, n = 8 for AMPD1 , but n = 3 for 15 min for both wild type and AMPD1 ). C: Numbers of electric stimulations after sprint exercise for 30 s with femoral artery ligation ischemia (n = 3 for wild type, n = 5 for AMPD1 ). Values are shown as the mean ± SE. *P < 0.05. (Wt: wild type, A1(−): AMPD1 ).
© Copyright Policy - CC BY-NC-SA
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC5121310&req=5

f0015: Exercise test in the endurance or sprint condition. A: Numbers of electric stimulations after sprint exercise for 30 s (n = 4). B: Numbers of electric stimulations during endurance exercise for 2.5, 5, 7.5, 10, 15, 20, 35, and 85 min (n = 9 for wild type, n = 8 for AMPD1 , but n = 3 for 15 min for both wild type and AMPD1 ). C: Numbers of electric stimulations after sprint exercise for 30 s with femoral artery ligation ischemia (n = 3 for wild type, n = 5 for AMPD1 ). Values are shown as the mean ± SE. *P < 0.05. (Wt: wild type, A1(−): AMPD1 ).

Mentions: Muscle function was assessed in 12-week-old male mice using both an endurance (85 min) and sprint (30 s) exercise protocol. No significant differences were observed in fatigability after sprint (Fig. 3A) and endurance (Fig. 3B) exercise between the wild-type and A1(−/−) mice. In addition, exercise performance was assessed under ischemic conditions, i.e. following arterial ligation, and no difference in exercise performance was noted between wild-type and A1(−/−) animals (Fig. 3C).


Effect of isolated AMP deaminase deficiency on skeletal muscle function ☆
Exercise test in the endurance or sprint condition. A: Numbers of electric stimulations after sprint exercise for 30 s (n = 4). B: Numbers of electric stimulations during endurance exercise for 2.5, 5, 7.5, 10, 15, 20, 35, and 85 min (n = 9 for wild type, n = 8 for AMPD1 , but n = 3 for 15 min for both wild type and AMPD1 ). C: Numbers of electric stimulations after sprint exercise for 30 s with femoral artery ligation ischemia (n = 3 for wild type, n = 5 for AMPD1 ). Values are shown as the mean ± SE. *P < 0.05. (Wt: wild type, A1(−): AMPD1 ).
© Copyright Policy - CC BY-NC-SA
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121310&req=5

f0015: Exercise test in the endurance or sprint condition. A: Numbers of electric stimulations after sprint exercise for 30 s (n = 4). B: Numbers of electric stimulations during endurance exercise for 2.5, 5, 7.5, 10, 15, 20, 35, and 85 min (n = 9 for wild type, n = 8 for AMPD1 , but n = 3 for 15 min for both wild type and AMPD1 ). C: Numbers of electric stimulations after sprint exercise for 30 s with femoral artery ligation ischemia (n = 3 for wild type, n = 5 for AMPD1 ). Values are shown as the mean ± SE. *P < 0.05. (Wt: wild type, A1(−): AMPD1 ).
Mentions: Muscle function was assessed in 12-week-old male mice using both an endurance (85 min) and sprint (30 s) exercise protocol. No significant differences were observed in fatigability after sprint (Fig. 3A) and endurance (Fig. 3B) exercise between the wild-type and A1(−/−) mice. In addition, exercise performance was assessed under ischemic conditions, i.e. following arterial ligation, and no difference in exercise performance was noted between wild-type and A1(−/−) animals (Fig. 3C).

View Article: PubMed Central - PubMed

ABSTRACT

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2&ndash;3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the AMPD1 was developed to study the consequences of muscle AMPD deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human AMPD1 deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.

No MeSH data available.


Related in: MedlinePlus