Genetic effects in human skeletal muscle fiber type distribution and enzyme activities

1986 ◽  
Vol 64 (9) ◽  
pp. 1245-1251 ◽  
Author(s):  
C. Bouchard ◽  
J. A. Simoneau ◽  
G. Lortie ◽  
M. R. Boulay ◽  
M. Marcotte ◽  
...  

The purpose of the study was to estimate the genetic effect for skeletal muscle characteristics using pairs of nontwin brothers (n = 32), dizygotic (DZ) twins (n = 26), and monozygotic (MZ) twins (n = 35). They were submitted to a needle biopsy of the vastus lateralis for the determination of fiber type distribution (I, IIa, IIb) and the following enzymes were assayed for maximal activity: creatine kinase, hexokinase, phosphofructokinase (PFK), lactate dehydrogenase, malate dehydrogenase, 3-hydroxyacyl CoA dehydrogenase, and oxoglutarate dehydrogenase (OGDH). For the percentage of type I fibers, intraclass correlations were 0.33 (p < 0.05), 0.52 (p < 0.01), and 0.55 (p < 0.01) in brothers and DZ and MZ twins, respectively. MZ twins exhibited significant within-pair resemblance for all enzyme activities (0.30 ≤ r ≤ 0.68). In spite of these correlations, genetic analyses performed with the twin data alone indicated that there was no significant genetic effect for muscle fiber type I, IIa, and IIb distribution and fiber areas. Although there were significant correlations in MZ twins for all muscle enzyme activities, the often nonsignificant intraclass coefficients found in brothers and DZ twins suggest that variations in enzyme activities are highly related to common environmental conditions and nongenetic factors. However, genetic factors appear to be involved in the variation of regulatory enzymes of the glycolytic (PFK) and citric acid cycle (OGDH) pathways and in the variation of the oxidative to glycolytic activity ratio (PFK/OGDH ratio). Data show that these genetic effects reach only about 25–50% of the total phenotypic variation when data are adjusted for age and sex differences.

1985 ◽  
Vol 63 (1) ◽  
pp. 30-35 ◽  
Author(s):  
J. A. Simoneau ◽  
G. Lortie ◽  
M. R. Boulay ◽  
M.-C. Thibault ◽  
G. Thériault ◽  
...  

The purpose of this study was to assess the relationship between muscle fiber type distribution and enzymatic characteristics in sedentary male and female subjects. Muscle biopsy samples from the vastus lateralis muscle of 38 females and 37 males were analyzed to determine the fiber type composition (I, IIa, and IIb), the fiber size, and maximal activities of enzyme markers of energy metabolic pathways. Significant correlations were found (p < 0.05) between percent fiber type I area and hexokinase (r = −0.39), phosphofructokinase (r = −0.39), lactate dehydrogenase (r = −0.41), and oxoglutarate dehydrogenase (r = 0.33) activities, whereas such correlations with total phosphorylase (r = −0.02), malate dehydrogenase (r = 0.12), and 3-hydroxyacyl CoA dehydrogenase (r = 0.12) activities were not significant. The results of the present study also suggest the presence of a significant but low covariation of less than 30% between the fiber type distribution and muscle enzyme activities. They confirm the presence of an important metabolic heterogeneity independent of the muscle fiber type distribution in sedentary male and female subjects. Moreover, these results indicate that sedentary males exhibit a lower mean value of percent fiber type I and higher glycolytic enzyme activities than sedentary females.


2016 ◽  
Vol 35 (6) ◽  
pp. 1359-1365 ◽  
Author(s):  
Michael J. Toth ◽  
Damien M. Callahan ◽  
Mark S. Miller ◽  
Timothy W. Tourville ◽  
Sarah B. Hackett ◽  
...  

2013 ◽  
Vol 114 (3) ◽  
pp. 380-386 ◽  
Author(s):  
Carlos B. Mantilla ◽  
Sarah M. Greising ◽  
Wen-Zhi Zhan ◽  
Yasin B. Seven ◽  
Gary C. Sieck

The diaphragm muscle (DIAm) is critically responsible for sustaining ventilation. Previously we showed in a commonly used model of spinal cord injury, unilateral spinal cord hemisection at C2 (SH), that there are minimal changes to muscle fiber cross-sectional area (CSA) and fiber type distribution following 14 days of SH-induced ipsilateral DIAm inactivity. In the present study, effects of long-term SH-induced inactivity on DIAm fiber size and force were examined. We hypothesized that prolonged inactivity would not result in substantial DIAm atrophy or force loss. Adult rats were randomized to control or SH groups ( n = 34 total). Chronic bilateral DIAm electromyographic (EMG) activity was monitored during resting breathing. Minimal levels of spontaneous recovery of ipsilateral DIAm EMG activity were evident in 42% of SH rats (<25% of preinjury root mean square amplitude). Following 42 days of SH, DIAm specific force was reduced 39%. There was no difference in CSA for type I or IIa DIAm fibers in SH rats compared with age, weight-matched controls (classification based on myosin heavy chain isoform expression). Type IIx and/or IIb DIAm fibers displayed a modest 20% reduction in CSA ( P < 0.05). Overall, there were no differences in the distribution of fiber types or the contribution of each fiber type to the total DIAm CSA. These data indicate that reduced specific force following prolonged inactivity of the DIAm is associated with modest, fiber type selective adaptations in muscle fiber size and fiber type distribution.


1998 ◽  
Vol 35 (5) ◽  
pp. 419-424 ◽  
Author(s):  
Jerald B. Moon ◽  
Sue Ann Thompson ◽  
Elise Jaeckel ◽  
John W. Canady

Objective This study examined the muscle fiber type distribution within the normal adult levator veli palatini muscle. Methods Levator veli palatini muscle tissue was harvested from the palates of 12 (seven female, five male) adult noncleft cadavers. Adjacent sections were stained for adenosine triphosphatase at pH 10.4 or 4.2. After mounting, magnifying, and photographing, Type I versus Type II fiber types were differentiated by the intensity of, or by the inhibition of, staining of matched fibers at each pH level. Type I fibers stained light at pH 10.4 and dark at pH 4.2, while Type II fibers stained light at pH 4.2 and dark at pH 10.4. Main outcome Measures The number of fibers counted for each specimen ranged from 60 to 616. The numbers of Type I and Type II stained fibers appearing in each muscle tissue sample were determined and expressed as a percentage of the total number of fibers identified. A few identified fibers could not be labelled as either Type I or Type II. Results The overall proportion of Type I fibers, averaged across all specimens, was 59.8%. Male specimens had 67.4% Type I fibers and 31.8% Type II fibers, while female specimens had 54.4% Type I fibers and 44.4% Type II fibers. Conclusions Observed fiber type distributions were similar to those reported for other articulatory muscles, but differed slightly from previously reported distributions for normal levator veli palatini. The distributions observed in this study provide a baseline against which to relate fiber type data from the levator veli palatini of cleft palates to the functional status of the velopharyngeal mechanism.


2021 ◽  
Author(s):  
Nikolay Oskolkov ◽  
Malgorzata Santel ◽  
Ola Ekström ◽  
Gray J. Camp ◽  
Eri Miyamoto-Mikami ◽  
...  

Abstract BACKGROUND: Skeletal muscle fiber type distribution has implications for human health, muscle function and performance. This knowledge has been gathered using labor-intensive and costly methodology that limited these studies. Here we present a method based on muscle tissue RNA sequencing data (totRNAseq) to estimate the distribution of skeletal muscle fiber types from frozen human samples, allowing for a larger number of individuals to be tested.METHODS: By using single-nuclei RNA sequencing (snRNAseq) data as a reference, cluster expression signatures were produced by averaging gene expression of cluster gene markers and then applying these to totRNAseq data and inferring muscle fiber nuclei type via linear matrix decomposition. This estimate was then compared with fiber type distribution measured by ATPase staining or myosin heavy chain protein isoform distribution of 62 muscle samples in two independent cohorts (n = 39 and 22).RESULTS: The correlation between the sequencing-based method and the other two were rATPas = 0.65 [0.46 – 0.84], [95% CI] and rmyosin = 0.80 [0.71 – 0.89], with p = 7.96 x 10-6 and 8.06 x 10-6 respectively. The deconvolution inference of fiber type composition was accurate even for very low totRNAseq sequencing depths, i.e., down to an average of ~5.000 paired-end reads.CONCLUSIONS: This new method (https://github.com/OlaHanssonLab/PredictFiberType) consequently allows for measurement of fiber type distribution of a larger number of samples using totRNAseq in a cost and labor-efficient way. For the first time, it is now feasible to study the association between fiber type distribution and e.g. health outcomes in large well-powered studies.


Author(s):  
Jorge Perez-Gomez ◽  
Nicolai Rytter ◽  
Camilla M. Mandrup ◽  
Jon Egelund ◽  
Bente Stallknecht ◽  
...  

The influence of the menopausal transition, with a consequent loss of oestrogen, on capillary growth in response to exercise training remains unknown. In the present study, we evaluated the effect of a period of intense endurance training on skeletal muscle angiogenesis in late pre-menopausal and recently post-menopausal women with an age difference of <4 years. Skeletal muscle biopsies were obtained from the thigh muscle prior to and after 12 weeks of intense aerobic cycle training, and analyzed for capillarization, fiber type distribution and content of vascular endothelial growth factor (VEGF). At baseline, there was no difference in capillary per fiber ratio (C:F; 1.41 ± 0.22 vs 1.40 ± 0.30), capillary density (CD; 305±61 vs 336±52 mm2), muscle fiber area (MFA) or percentage distribution of muscle fiber type I (47.3±10.1 vs 49.3±15.1 %) and type II (52.7±10.1 vs 50.7±15.1%) between the pre- and post-menopausal women. The training period resulted in a similar increase in C:F in pre- and post-menopausal women (by 9.2 vs 12.1 %, respectively) and CD (by 6.9 vs 8.9 %, respectively), whereas MFA and fiber type distribution remained unaltered. Skeletal muscle VEGF protein content was similar between groups at baseline and increased to a similar extent with training (by 21.1 vs 27.2 %, respectively) in the pre- and post-menopausal women. In conclusion, the loss of oestrogen per se at menopause does not influence the capillary growth response to intense aerobic exercise training.


2014 ◽  
Vol 306 (9) ◽  
pp. H1364-H1370 ◽  
Author(s):  
Dalane W. Kitzman ◽  
Barbara Nicklas ◽  
William E. Kraus ◽  
Mary F. Lyles ◽  
Joel Eggebeen ◽  
...  

Heart failure (HF) with preserved ejection fraction (HFPEF) is the most common form of HF in older persons. The primary chronic symptom in HFPEF is severe exercise intolerance, and its pathophysiology is poorly understood. To determine whether skeletal muscle abnormalities contribute to their severely reduced peak exercise O2 consumption (V̇o2), we examined 22 older HFPEF patients (70 ± 7 yr) compared with 43 age-matched healthy control (HC) subjects using needle biopsy of the vastus lateralis muscle and cardiopulmonary exercise testing to assess muscle fiber type distribution and capillarity and peak V̇o2. In HFPEF versus HC patients, peak V̇o2 (14.7 ± 2.1 vs. 22.9 ± 6.6 ml·kg−1·min−1, P < 0.001) and 6-min walk distance (454 ± 72 vs. 573 ± 71 m, P < 0.001) were reduced. In HFPEF versus HC patients, the percentage of type I fibers (39.0 ± 11.4% vs. 53.7 ± 12.4%, P < 0.001), type I-to-type II fiber ratio (0.72 ± 0.39 vs. 1.36 ± 0.85, P = 0.001), and capillary-to-fiber ratio (1.35 ± 0.32 vs. 2.53 ± 1.37, P = 0.006) were reduced, whereas the percentage of type II fibers was greater (61 ± 11.4% vs. 46.3 ± 12.4%, P < 0.001). In univariate analyses, the percentage of type I fibers ( r = 0.39, P = 0.003), type I-to-type II fiber ratio ( r = 0.33, P = 0.02), and capillary-to-fiber ratio ( r = 0.59, P < 0.0001) were positively related to peak V̇o2. In multivariate analyses, type I fibers and the capillary-to-fiber ratio remained significantly related to peak V̇o2. We conclude that older HFPEF patients have significant abnormalities in skeletal muscle, characterized by a shift in muscle fiber type distribution with reduced type I oxidative muscle fibers and a reduced capillary-to-fiber ratio, and these may contribute to their severe exercise intolerance. This suggests potential new therapeutic targets in this difficult to treat disorder.


1993 ◽  
Vol 74 (2) ◽  
pp. 911-915 ◽  
Author(s):  
G. R. Adams ◽  
B. M. Hather ◽  
K. M. Baldwin ◽  
G. A. Dudley

We recently reported that 19 wk of heavy resistance training caused a decrease in the percentage of type IIb and an increase in the percentage of type IIa fibers as determined by qualitative histochemical analyses of myofibrillar adenosinetriphosphatase activity of biopsies of musculus vastus lateralis (Hather et al. Acta Physiol. Scand. 143: 177–185, 1991). These data were interpreted to suggest that resistance training had caused transformation among the fast-twitch fiber subtypes. To more clearly establish the influence of resistance training on muscle fiber composition, biopsies from the original study were analyzed biochemically for myosin heavy chain (MHC) composition by use of sodium dodecyl sulfate-polyacrylamide gel electrophoresis and histochemically for fiber types by use of myofibrillar adenosinetriphosphatase activity. The results show that after training (n = 13), IIb MHC composition decreased (P < 0.05) from 19 +/- 4 to 7 +/- 1%. IIa MHC, in contrast, increased (P < 0.05) from 48 +/- 3 to 60 +/- 2%. These responses were essentially mirrored by alterations in fiber type distribution. The percentage of type IIb fibers decreased (P < 0.05) from 18 +/- 3 to 1 +/- 1%, whereas the percentage of type IIa fibers increased from 46 +/- 4 to 60 +/- 3% (P < 0.05). Neither I MHC composition nor type I fiber percentage changed with training. The control group (n = 4) showed no changes in MHC composition or fiber type distribution. These results suggest that heavy resistance training alters MHC composition in human skeletal muscle, presumably reflecting a change in genetic expression.


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