FB2026_03 , released September 17, 2026
Human Disease Model Report: visceral myopathy (postulated), MSTO1-related
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General Information
Name
visceral myopathy (postulated), MSTO1-related
FlyBase ID
FBhh0000805
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes visceral myopathy (postulated), MSTO1-related. The human gene mitochondrial distribution and morphology regulator (MSTO1) is postulated to have a role in the development of visceral myopathy, a phenotype observed in a number of intestinal diseases. MSTO1 has been associated with Crohn's disease and inflammatory bowel disease in a number of GWAS studies; it is also implicated in the disease myopathy, mitochondrial, and ataxia (MIM:617675). There is a single orthologous gene in Drosophila, mst, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.

The human MSTO1 gene has not been introduced into flies.

Depletion of Dmel\mst in muscle, effected by RNAi, impairs adult intestinal functions, with indications of degeneration of visceral muscle. The disrupted intestinal functions include multiple phenotypes related to visceral myopathy, such as dilation of intestinal tracts, decreased gut motility, reduced food intake, and shortened life span; skeletal muscles appear to be unaffected. Physical and genetic interactions of Dmel\mst have been described; see below and in the mst gene report.

[updated Jul. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: visceral myopathy (postulated), MSTO1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012; pubmed:22960657); the urinary tract may be affected. [from MIM:155310; 2018.07.12]

(OMIM, 2013-)
Genetics

MSTO1 is associated with Crohn's disease or inflammatory bowel disease in two GWAS studies (see GWAS Catalog, below in 'External links').

(FlyBase Curators, 2013-)
Cellular phenotype and pathology
Molecular information

MSTO1 associates with the mitochondrial outer membrane and has a role in mitochondrial fusion and intracellular distribution (Kimura and Okano, 2007; pubmed:17349998) [from MIM:617619; 2018.05.14]

(OMIM, 2013-)
External links
Disease synonyms
myopathy, mitochondrial, and ataxia
visceral myopathy, MSTO1-related
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MSTO1; misato mitochondrial distribution and morphology regulator 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mst
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to one (1 human to 1 Drosophila).

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\mst
      Gene Snapshot
      misato (mst) encodes a conserved protein that acts as a co-factor of the TCP-1 tubulin chaperone complex. It is required for mitotic spindle assembly and viability and for tubulin polymerization and stability. [Date last reviewed: 2019-03-14]
      Molecular function (GO)
        Cellular component (GO)
        Gene Groups / Pathways
          Comments on ortholog(s)

          High-scoring ortholog of human MSTO1 (1 Drosophila to 1 human); Dmel\mst shares 30% identity and 46% similarity with the human gene.

          Orthologs and Alignments from DRSC
          DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
          H. sapiens (Human)
          Other Genes Used: Viral, Bacterial, Synthetic (0)
            Summary of Physical Interactions (19 groups)
            mst
            protein-protein
            Interacting group
            Assay
            References
            mst - CCT1
            anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT2
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT3
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT4
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT5
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT6
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT7
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CCT8
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - CG5721
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - mgr
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - PDCD-5
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Pfdn1
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Pfdn2
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Pfdn4
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Pfdn5
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Pfdn6
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - PhLP2
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - Smyd4-4
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            mst - STUB1
            anti tag coimmunoprecipitation, Identification by mass spectrometry
            (Palumbo et al., 2015)
            Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
            mst
            Models Based on Experimental Evidence ( 3 )
            Modifiers Based on Experimental Evidence ( 2 )
            Allele
            Disease
            Interaction
            References
            mstUAS.ORF
            ameliorates  myotonia congenita
            modeled by mstJF03280
            (Min et al., 2017)
            mstJF03280
            model of  myotonia congenita
            is ameliorated by mstUAS.ORF
            (Min et al., 2017)
            is ameliorated by Act79BUASp.GFP
            (Min et al., 2017)
            is ameliorated by BacA\p35UAS.cHa
            (Min et al., 2017)
            Alleles Representing Disease-Implicated Variants
            Genetic Tools, Stocks and Reagents
            Sources of Stocks
            Contact lab of origin for a reagent not available from a public stock center.
            Bloomington Stock Center Disease Page
            Related mammalian, viral, bacterial, or synthetic transgenes
            Allele
            Transgene
            Publicly Available Stocks
            Selected Drosophila transgenes
            Allele
            Transgene
            Publicly Available Stocks
            mstUAS.ORF
            M{UAS-mst.ORF}
            M{UAS-mst.ORF}ZH-86Fb
            RNAi constructs available
            Allele
            Transgene
            Publicly Available Stocks
            mstVSH330393
            P{VSH330393}
            P{VSH330393}attP40
            mstGD8272
            P{GD8272}
            mstJF03280
            P{TRiP.JF03280}
            y1 v1; P{TRiP.JF03280}attP2
            mstKK101611
            P{KK101611}
            P{KK101611}VIE-260B
            mstNIG.1424R
            P{NIG.1424R}
            P{NIG.1424R}1
            Selected Drosophila classical alleles
            Allele
            Allele class
            Mutagen
            Publicly Available Stocks
            mst3
            amorphic allele - molecular evidence
            X ray
            mst3/FM7a
            mst2
            amorphic allele - molecular evidence
            ethyl methanesulfonate
            ms19 mst2/FM6
            mst6
            loss of function allele
            ethyl methanesulfonate
            References (4)