Gene "mitochondria"
Found 2 records
Gene information
Gene symbol:
mitochondria
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(1) ,Penetrance(1)  
Modifier effect:
Altered incidence(1) ,Altered severity(1)  
Details：
  • Variant 1:
    mitochondria:c.T4336C
    Gene:
    mitochondria
    Genomic location:
    dbSNP ID:
    Target disease:
    Alzheimer's Disease(DOID_10652)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Present in 5 of 139 cases and none of 82 controls; odds ratio = infinity, 95% CI 0.73 to infinity 
    Effect:
    The T4336C variant was associated with disease
    Reference:
    PMID11882743
    Title:
    Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants.
    Species studied:
    Human
    Abstract:
    The T4336C mitochondrial genetic variant was associated with Alzheimer disease in several previous studies. Recent investigations, however, failed to confirm this association. We tested this association in newly diagnosed Alzheimer disease cases and controls of similar age and gender recruited from an established HMO serving Seattle, Washington and surrounding areas. In this, the largest case-control study reported to date, the T4336C variant was not associated with Alzheimer disease overall (present in 6 of 236 cases and 7 of 328 controls; odds ratio = 1.20, 95% CI 0.33 to 4.22). There was evidence of effect modification by Apolipoprotein E (APOE) status--among subjects with an APOE epsilon 4 allele, the T4336C variant was associated with disease (present in 5 of 139 cases and none of 82 controls; odds ratio = infinity, 95% CI 0.73 to infinity). APOE may be an important modifier of the T4336C effect, potentially explaining variable findings across previous studies. Alternatively, the positive findings reported to date may simply reflect the problem of type I error inherent in genetic association studies. Substantially larger samples than are currently available would be required to resolve this question. G5460(A/T) variants were also investigated and found not to be associated with Alzheimer disease.
  • Variant 2:
    mitochondria:c.A1555G
    Gene:
    mitochondria
    Genomic location:
    dbSNP ID:
    Target disease:
    Primary coenzyme Q10 deficiency 1(DOID_0070238)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Gene activity study 
    Effect:
    Both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunction
    Reference:
    PMID28409910
    Title:
    Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
    Species studied:
    Human
    Abstract:
    Primary ubiquinone (co-enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss. We used patient fibroblast cell lines and a heterologous expression system to show that both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunction. The severity of L111P is enhanced by the particular COQ7 polymorphism (T103M) that the patient carries, but not by a mitochondrial DNA mutation (A1555G) that is also present in the patient and that has been linked to aminoglycoside-dependent hearing loss. We analysed treatment with the unnatural biosynthesis precursor 2,4-dihydroxybenzoate (DHB), which can restore ubiquinone synthesis in cells completely lacking the enzymatic activity of COQ7. We find that the treatment is not beneficial for every COQ7 mutation and its outcome depends on the extent of enzyme activity loss.