Fetal plasma carbonic anhydrase III in prenatal diagnosis of duchenne muscular dystrophy

Abstract

Carbonic anhydrase III (CAIII), a skeletal-muscle-specific enzyme which is elevated in the plasma of Duchenne muscular dystrophy (DMD) patients, was measured by radioimmunoassay in fetal plasma in order to evaluate its application to prenatal diagnosis of DMD. Using fetoscopy, pure fetal blood samples were taken at 17-24 weeks gestation from 25 fetuses at risk for DMD and from 78 control fetuses. Care was taken in the handling and storage of all samples. Normal sons were born in eight cases at risk for DMD. The CAIII levels in the infants were not significantly different from those of the control infants. Pregnancies were terminated in the remaining 17 at-risk cases. The CAIII levels in the fetuses were significantly different (p = 0.0034) from those of the control fetuses, although the distributions overlapped. Based on prior maternal risk, seven affected fetuses were expected in the terminated group; five had CAIII levels at or above the 95th centile of the control range. It is suggested that measurement of CAIII achieves partial discrimination between affected fetuses and their normal at-risk brethren.

Molecular characterization and association analysis of porcine <i>CA3</i>

“…As an early marker of myogenesis (Lyons et al, 1991), CA3 plays an important role in muscle diseases (Heath et al, 1985;Mokuno et al, 1986). In the present study, we demonstrated that the distribution of CA3 differed in transcription level during different times of muscle development, with the highest level in prenatal 65-day-old skeletal muscle from Tongcheng pigs, an essential stage of muscle development for increasing muscle fiber number (Swatland, 1973).…”

Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies

“…Assay systems were used with single enzyme activities or combinations of various muscle-derived enzymes in patient serum [206-208, 211, 213]. Besides the examining of disease progression in dystrophic children, screening approaches included fetal plasma [219,220] and the blood analysis of newborns [204,205,221], as well as a large number of investigations into the evaluation of carrier status [222][223][224][225][226]. The combined testing of several serum markers has shown the potential of improved screening efficiency, such as the usage of creatine kinase, myoglobin and hemopexin for identifying Duchenne muscular dystrophy carriers [227].…”

Role of mitophagy in muscle growth and metabolism

“…Interestingly, muscle-specific carbonic anhydrase-3 (Car3) mRNA expression has been shown to be upregulated in mice and chicken skeletal muscle dystrophy models 321,322 and in COPD-induced skeletal muscle atrophy patients 323 . Also, elevated CAR3 levels in fetal plasma has been proposed to be a marker for the early diagnosis of DMD in the developing fetus 324 . The function of CAR3 has been postulated to act as cellular antioxidant in skeletal muscle, which suggests that the increased Car3 expression observed in Parkin KO Gas muscle may be due to elevated ROS levels 325 .…”