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

Danio rerio
mstnb
Danio rerio
mstna
Drosophila melanogaster
myo
Mus musculus
Mstn
Rattus norvegicus
Mstn

In other databases

GenAge model organism genes
  • 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