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• W3171853721 abstract "Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the DMD gene, primarily affects 1 in 3,500 males. Despite DMD occurring predominantly in boys, female carriers, females who have a copy of the mutated DMD gene in one of two of their X chromosomes, may also display signs and symptoms of DMD. These women are termed manifesting carriers. Studies have shown that 2.5-17% of female carriers experience signs and symptoms of DMD. Similarly to DMD patients, manifesting carriers display skeletal muscle weakness and cardiomyopathy. Accumulating evidence from human and rodent studies show that estrogen deficiency, specifically, 17beta-estradiol (E2), contributes to further loss of skeletal muscle strength and reduced recovery after skeletal muscle injury. To date, there is a paucity of information on manifesting carriers pertaining to dystrophin-associated skeletal muscle weakness. Thus, we questioned whether female carriers who may not experience DMD symptoms early in life may develop clinical manifestations of DMD later in life due to the decline of estrogen. We hypothesized deficits of estrogen would compound skeletal muscle dysfunction in female mdx mice and decrease the ability of muscle to recover from eccentric contraction-induced injury. Ventilatory dysfunction was assessed using whole-body plethysmography and diaphragm muscle strength, fatigue, and recovery of strength were measured ex vivo. In vivo isometric torque, fatigue and recovery measurements, and eccentric contraction-induced injury and recovery measurements were assessed in the anterior crural muscles. No differences between sham and OVX mdx mice in ventilatory function, strength, or recovery of strength after fatigue in the diaphragm muscle or anterior crural muscles was detected (p ≥ 0.078). However, OVX mice had a blunted recovery of strength after injury compared to shammice (p ≤ 0.019). Although there was a minimal impact of estrogen deficiency on skeletal muscle contractile function in the diaphragm and leg muscles of female mdx mice, this study highlights the role of estrogen as a modulator of muscle recovery in female mdx mice after injury." @default.
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• W3171853721 date "2021-05-01" @default.
• W3171853721 modified "2023-09-26" @default.
• W3171853721 title "Estrogen Deficiency Minimally Affects Diaphragm and Leg Muscle Functions in Female mdx Mice" @default.
• W3171853721 doi "https://doi.org/10.1096/fasebj.2021.35.s1.04932" @default.
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