Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) 蛋白 (OPA3)

Zebrafish Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

1. mitochondrial OPA3 is required to limit HMG-CoA-derived MGC and protect the electron transport chain against inhibitory compounds in a zebrafish model of Costeff Syndrome

Mouse (Murine) Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

1. Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the lower mandible, accompanied in some individuals by cranial asymmetry and incisor malocclusion

2. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.

3. Mutant Opa3 protein retains its mitochondrial localization and induces disrupted mitochondrial morphology. Opa3 accumulates in the lens. The results may reflect a slow turnover of Opa3 protein in vivo and may be important in normal lens physiology.

4. to investigate the OPA3 function we have generated a novel ENU-induced mutant mouse carrying a missense mutation in the OPA3 gene. In the heterozygous state, the mice appear uncompromised. In the homozygous state mice display some of the features of MGA.

Cow (Bovine) Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

1. The present study is the first report of the OPA3 mutation in dilated cardiomyopathy affected cows outside Switzerland.

2. the nonsense mutation c.343C>T in the bovine OPA3 gene causes the late-onset dilated cardiomyopathy in Red Holstein cattle.

Human Optic Atrophy 3 (Autosomal Recessive, with Chorea and Spastic Paraplegia) (OPA3) interaction partners

1. Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy.

2. Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant.

3. A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia.

4. OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases.

5. OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy.

6. findings thus place the cellular metabolic defect of 3-methylglutaconic aciduria type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology.

7. two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC)

8. patient with Costeff syndrome presenting the characteristics of this syndrome and the single-nucleotide polymorphic gene that causes this disease.

9. OPA1 mutations, mtDNA mutations, and OPA3 mutations in 980 patients Leber's hereditary optic neuropathy and autosomal dominant optic atrophy

10. The mouse ortholog of OPA3 purifies with mitochondrial inner membranes.

11. The mouse ortholog of OPA3 purifies with mitochondria

12. type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews