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Abnormal expression of seven myogenesis-related genes in extraocular muscles of patients with concomitant strabismus
Yujuan Zhu1, Daming Deng, Chongde Long
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, PR China.
Abstract:
Hyperplasia or hypoplasia of muscles gradually leads to strabismus. Myogenesis-related genes are involved in extraocular muscle development, including myogenic differentiation 1 (MYOD1), myogenin (MYOG), retinoblastoma 1 (RB1), cyclin-dependent kinase inhibitor 1A (P21), cyclin‑dependent kinase inhibitor 1C (P57), insulin-like growth factor 1 (IGF1) and muscle creatine kinase (MCK). This study evaluated the expression of the above seven myogenesis-related genes by real-time quantitative RT-PCR in 18 resected extrocular muscles of patients with concomitant strabismus and 12 normal control muscle samples from one presumably healthy male 6 h after sudden mortality. We found that although there was a great divergence among the expression levels of 6 myogenesis-related regulatory factors, the relative expression patterns were similar in all the normal muscles, including the synergistic, antagonistic and yoke muscles. However, their expression levels in the 18 diseased extraocular muscles were abnormal; the expression levels of all the genes, with the exception of P57, were reduced in most of the diseased muscle tissues. These results imply that the abnormal expression of these myogenesis-related genes may contribute to concomitant strabismus.
Insights
Abnormal expression of myogenesis-related genes, such as MYOD1 and MYOG, is linked to strabismus. Most of these genes showed reduced expression in strabismic eye muscles, suggesting a role in the condition.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Strabismus can result from abnormal extraocular muscle development.
- Myogenesis-related genes are crucial for muscle formation and function.
Purpose of the Study:
- To investigate the expression patterns of seven key myogenesis-related genes in patients with concomitant strabismus.
- To determine if altered gene expression contributes to the development of strabismus.
Main Methods:
- Real-time quantitative RT-PCR was used to analyze gene expression.
- Eighteen resected extraocular muscles from strabismus patients and 12 control samples were studied.
- The expression of MYOD1, MYOG, RB1, P21, P57, IGF1, and MCK was evaluated.
Main Results:
- Normal extraocular muscles exhibited similar relative expression patterns for six myogenesis-related factors.
- Most of the studied genes (except P57) showed reduced expression levels in the diseased extraocular muscles.
- Significant divergence in expression levels was observed among the regulatory factors.
Conclusions:
- Abnormal expression of myogenesis-related genes, particularly reduced levels of MYOD1, MYOG, RB1, P21, IGF1, and MCK, may play a role in the pathogenesis of concomitant strabismus.
- These findings highlight the genetic basis of extraocular muscle development disorders.
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