LongevityMap Gene

Gene details

HGNC symbol
MSTN 
Aliases
GDF8; MSLHP 
Common name
myostatin 
Description
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
OMIM
601788
Ensembl
ENSG00000138379
UniProt/Swiss-Prot
GDF8_HUMAN
Entrez Gene
2660
UniGene
41565
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
daf-7
Danio rerio
mstnb
Drosophila melanogaster
myo
Mus musculus
Mstn
Rattus norvegicus
Mstn

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as daf-7
  • A homolog of this gene for Drosophila melanogaster is present as myo
  • A homolog of this gene for Mus musculus is present as Mstn

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Spanish and Italian
Study Design
MSTN variants were analyzed in 540 individuals (cases, n = 156; 132 women, age range 100–111 years) and younger adults (controls, n = 384; 167 women, age <50 years) for the association with longevity. The results were replicated in an Italian cohort (centenarians, n = 79 (40 women), age range 100–104 years; younger controls, n = 316 (155 women), age <50 years).
Conclusions
The frequency of the variant R allele of the MSTN K153R(rs1805086) polymorphism was significantly higher in Spanish centenarians (7.1 %) than in controls (2.7 %) (P = 0.001). Similar results were found in Italian centenarians (7.6 %) compared to controls (3.0 %) (P = 0.004). The variant R allele is associated with exceptional longevity.
Indentifier
rs1805086
Reference