MYH10 and Associated Diseases
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Overview of MYH10
In humans, myosin heavy chain 10 (MYH10, also known as Myosin-10 or non-muscle myosin IIB) is a protein encoded by the MYH10 gene. MYH10 is a member of the myosin superfamily and is the only isoform of non-muscle myosin II expressed in adherens junctions of cardiac muscle, through non-muscle myosins are expressed in many tissues. MYH10 plays an important role in the normal development of cardiac muscle and the integrity of intercalated discs.
MYH10 in Disease
Mutations in MYH10 have been identified in patients with neurodevelopmental disorders, pulmonary disease, left atrial enlargement, and so on.
- Neurodevelopmental disorders and defective ciliogenesis
Heterozygous variants of MYH10 may be a novel genetic cause of isolated and syndromic neurodevelopmental disorders (NDD). Nonmuscle myosin II complexes containing MYH10 play essential roles during embryogenesis. In patients with heterozygous MYH10 variants, a broad spectrum of neurodevelopmental disorders and variable congenital anomalies are observed, which can be recapitulated by the mouse model with ectopic expression of MYH10. Besides, Cas9-based MYH10 knockout cell model defects in primary ciliogenesis because of impaired Hedgehog signaling, which is consistent with the overexpression of the MYH10 variant. Taken together, MYH10 heterozygous variants play an essential role in the autosomal dominant disorder.
- Pulmonary disease
MYH10 is important for amelogenesis and contributes to the pathogenesis of pulmonary diseases. Impaired alveolar formation and maintenance are typical characteristics of many pulmonary diseases, which are related to significant morbidity and mortality. MYH10 is a modulator identified during mouse lung development. MYH10 mutant progeny perform cyanosis and respiratory distress and die shortly after birth because of differentiation defects in alveolar cells together. Knockout of MYH10 in mesenchymal cells defects in extracellular matrix deposition and results in alveolar simplification. Besides, downregulation of MYH10 is observed in patients with pulmonary diseases such as emphysema. Altogether, MYH10 can be regarded as a promising target for the prevention or treatment of pulmonary diseases.
Fig.1 Expression of MYH10 is low in lung tissues from emphysema patients than from healthy controls. (Kim, 2018)
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Reference
- Holtz, A. M.; et al. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine. 2022, 24: 2065–2078.
- Kim, H.-T.; et al. MYH10 deficiency leads to defective extracellular matrix remodeling and pulmonary disease. Nat Commun. 2018, 9: 4600.
