Ask about this productRelated genes to: MSTO1 Blocking Peptide
- Gene:
- MSTO1 NIH gene
- Name:
- misato mitochondrial distribution and morphology regulator 1
- Previous symbol:
- -
- Synonyms:
- FLJ10504, LST005, MST, misato
- Chromosome:
- 1q22
- Locus Type:
- gene with protein product
- Date approved:
- 2005-07-19
- Date modifiied:
- 2018-11-09
Related products to: MSTO1 Blocking Peptide
Related articles to: MSTO1 Blocking Peptide
- Pathogenic MSTO1 mutations cause cerebellar ataxia and congenital myopathy, yet their molecular mechanisms remain poorly understood. This study identifies MSTO1 as a crucial regulator of mitochondrial genome integrity through direct interaction with RAD51. MSTO1 deficiency enhances RAD51 binding to mitochondrial DNA (mtDNA), disrupting mtDNA replication and causing mtDNA damage. This interaction, mediated by the conserved FxxA motif, specifically regulates RAD51's mitochondrial activity without affecting its nuclear roles. Loss of MSTO1 impairs mitochondrial membrane potential, reduces mtDNA content, and increases susceptibility to oxidative stress. Furthermore, MSTO1 deficiency triggers BAX/BAK-dependent mtDNA leakage, activating the cGAS-STING pathway and driving inflammatory responses. Clinical bioinformatics further link low MSTO1 expression with immune activation in cancers. Our findings establish MSTO1 as a modulator of RAD51 activity within mitochondria, regulating mitochondrial stability and immune responses. This provides insights into MSTO1-related diseases and suggests MSTO1 as a potential target for activating anti-tumor immune responses in cancer cells. - Source: PubMed
Publication date: 2026/05/07
Cheng KaiqiXu ZhanzhanLiu JiansongPan YichenNie ChenMao ZuchaoLin HaodongQin YingyuCao ShuqiLi XiaomanWang WeibinLi ShiweiWang Jiadong - encodes a regulator of mitochondrial fusion. Mutations in are linked to a rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia, with 31 cases reported globally to date, which underscores its exceptional rarity. - Source: PubMed
Publication date: 2026/04/13
Wu BinLv JingweiShen TongWen BingWang Tan - We report clinical and genetic features in four patients from 3 independent families with an ultra-rare autosomal recessive myopathy associated with biallelic pathogenic or likely pathogenic variants in MSTO1. Exome or genome sequencing was used to identify genetic variants in patients with suspected hereditary myopathy who had negative results on targeted genetic panels. Age at diagnosis ranged from 13 to 30 years. All patients exhibited myopathy of variable severity. Two had congenital hypotonia and global developmental delay, while the remaining two developed muscle weakness at ages 2 and 5. Magnetic resonance imaging evidence of cerebellar atrophy was noted in Patient 3. The most common non-neurologic abnormality noted in our cases was skeletal abnormalities. MSTO1-related disease presents primarily as an early-onset myopathy, occasionally accompanied by cerebellar atrophy and skeletal abnormalities. As genome-wide sequencing is increasingly becoming a first line test for unexplained myopathy, further characterization of the phenotypic spectrum is likely. - Source: PubMed
Publication date: 2026/01/30
Sharma RishiSchimmenti Lisa ASmith BennPinto E Vairo FilippoSelcen DuyguDhamija Radhika - To identify genetic variants associated with glucocorticoid (GC)-induced intraocular pressure (IOP) change using genome-wide association study (GWAS) and whole exome sequencing (WES) analyses. - Source: PubMed
Publication date: 2026/01/02
Lama JyotiLiu ReneeHuerta-Chagoya AliciaLi AshleyHuynh KatieStanwyck Lynn KHan SamuelZhao YanChan WeilinChen LiyinMukundan AnanyaMeng DaYang Janine YSusarla GayatriSang DeliaPapaliodis George NShen Lucy QRossin ElizabethElkins ChristineBenavides IrmaWafapoor HusseinCutino AntonioWiggs Janey LEaton Alexander MSegrè Ayellet VSobrin Lucia - Weight traits serve as key economic indicators for assessing growth performance and commercial quality in the mud crab , yet the genetic basis of these traits remains poorly characterized. Here, we performed whole-genome resequencing on 323 individuals and conducted genome-wide association studies (GWAS) on five weight-related traits: (1) body-related traits, including body weight (BW), trunk weight (TruW), and weight excluding chelae (WEC); (2) appendage-related traits, containing appendage weight (AppW) and cheliped weight (CheW). Significantly associated SNPs were primarily enriched on chromosomes 15, 22, 25, and 36. For body-related traits, we identified 45 shared candidate SNPs and 175 common candidate genes; appendage-related traits revealed 71 shared candidate SNPs, and 229 common genes were identified; and across all five traits, there were 9 shared candidate SNPs and 49 common genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses indicated that shared functional terms/pathways among the five traits were mainly related to metabolism, development, and immunity. Body-related traits exhibited more unique GO terms and KEGG pathways associated with metabolism and immunity, whereas appendage-related traits showed some unique GO terms and KEGG pathways involved in development and morphogenesis. Among the candidate genes, we identified multiple genes associated with growth and development, metabolism, and immune responses. For example, the gene, common to carapace-related traits, is linked to feeding; the gene, which is common to appendage-related traits, is connected to movement, and the gene is pertinent to muscle development. Among the candidate genes shared by all five traits, there are a series of genes concerning growth and development (such as , , , , ) and immune responses (). These findings advance our understanding of the genetic architecture underlying decapod crustacean growth and provide valuable insights for optimizing sustainable breeding strategies in . - Source: PubMed
Publication date: 2025/06/20
Chen LinZhang YaodongJia PeitanZhou SiyiQin QionghuiZhang WeirenHuang KeweiWang XiaopengYe Haihui