This report describes a fly model of myopathy, distal, 1 (MPD1); MPD1 exhibits autosomal dominant inheritance. The human gene implicated in this disease is MYH7, which encodes a cardiac muscle myosin class II heavy chain. There are multiple forms of myopathy, cardiomyopathy, and related diseases associated with MYH7 (see MIM:160760). In flies there is one gene, Mhc, orthologous to the ten genes that encode forms of muscle myosin class II heavy chain in humans; MYH7 is a reciprocal best hit of Dmel\Mhc. Classical amorphic and hypomorphic alleles, RNAi targeting constructs, and alleles caused by insertional mutagenesis have been generated for the Mhc gene.
The human MYH7 gene has not been introduced into flies.
Work in flies has focused on characterization of a mutation introduced into the endogenous Dmel\Mhc gene that is analogous to a specific variant of MYH7 associated with MPD1. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): K1728del in the fly Mhc gene (corresponds to K1729del in the human MYH7 gene). Phenotypes of amorphic alleles of Mhc range from lethality to flight defective; defects in myofibrils and sarcomeres are observed. Extensive genetic and physical interactions of Dmel\Mhc have been described; see below and in the Mhc gene report.
See also the human disease model report 'myopathy, MYH-class-II-related' (FBhh0000423).
[updated Sep. 2018 by FlyBase; FBrf0222196]
[MYOPATHY, DISTAL, 1; MPD1](https://omim.org/entry/160500)
[MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7](https://omim.org/entry/160760)
Characteristics common to several identified families include onset in the second or third year of life, selective wasting and weakness of the anterior tibial and extensor digitorum longus muscles, a slowly progressive course, and, at later stages, involvement of hand extensors, neck flexor, and abdominal muscles. Some patients develop tremor. [from MIM:160500; 2018.09.13]
Distal myopathy-1 (MPD1), also known as Laing distal myopathy, is caused by heterozygous mutation in the MYH7 gene. [from MIM:160500; 2018.09.13]
Many to one (10 human to 1 Drosophila).
Ortholog of human muscle myosin heavy chain genes, class II (1 Drosophila to 10 human).
