HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)

Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Also Known As:
Dominant Optic Atrophy; Optic Atrophy, Autosomal Dominant; Autosomal Dominant Optic Atrophy Kjer Type; Kjer Type Optic Atrophy; Kjer's Optic Atrophy; Kjer-Type Optic Atrophy; Optic Atrophy 1; Optic Atrophy Type 1; Optic Atrophy, Juvenile; Optic Atrophy, Kjer Type; Atrophies, Juvenile Optic; Atrophies, Kjer-Type Optic; Atrophy, Juvenile Optic; Atrophy, Kjer's Optic; Atrophy, Kjer-Type Optic; Dominant Optic Atrophies; Juvenile Optic Atrophies; Juvenile Optic Atrophy; Kjer Optic Atrophy; Kjer-Type Optic Atrophies; Kjers Optic Atrophy; Optic Atrophies, Dominant; Optic Atrophies, Juvenile; Optic Atrophies, Kjer-Type; Optic Atrophy 1s; Optic Atrophy, Dominant; Optic Atrophy, Kjer's; Optic Atrophy, Kjer-Type; Optic Atrophy, Hereditary, Autosomal Dominant
Networked: 427 relevant articles (11 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mitochondrial Diseases (Mitochondrial Disease)
2. Myocardial Ischemia (Ischemic Heart Diseases)
3. Vascular Calcification
4. Macular Edema
5. Ischemia

Experts

1. Scorrano, Luca: 20 articles (03/2022 - 11/2004)
2. Carelli, Valerio: 19 articles (01/2021 - 01/2004)
3. Amati-Bonneau, Patrizia: 13 articles (06/2020 - 06/2003)
4. Reynier, Pascal: 13 articles (06/2020 - 06/2003)
5. Barboni, Piero: 11 articles (01/2021 - 11/2004)
6. La Morgia, Chiara: 10 articles (01/2021 - 05/2009)
7. Bonneau, Dominique: 10 articles (06/2020 - 06/2003)
8. Lenaers, Guy: 10 articles (06/2020 - 11/2005)
9. Wissinger, Bernd: 9 articles (12/2021 - 11/2004)
10. Chevrollier, Arnaud: 9 articles (06/2020 - 06/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Optic Atrophy:
1. Proteins (Proteins, Gene)FDA Link
2. Dynamins (Dynamin)IBA
3. DNA (Deoxyribonucleic Acid)IBA
4. ResveratrolIBA
5. Sirtuin 3IBA
6. Glucose (Dextrose)FDA LinkGeneric
05/01/2006 - "Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene."
10/05/2023 - "In vivo and in vitro, HC-030031 reduced cisplatin-induced Scr and BUN level elevations; improved cisplatin-induced renal tissue injury, apoptosis, and mitochondrial dysfunction; elevated the reduced ERS-associated proteins glucose-regulated protein 78 (GRP78), glucose-regulated protein 75 (GRP75), and C/EBP homologous protein (CHOP) levels induced by cisplatin; reduced the elevated optic atrophy 1 (OPA1), mito-fusion 1 (MFN1), and mito-fusion 2 (MFN2) protein levels, and elevated phospho-dynamin-related protein 1 (p-DRP1) and mitochondrial fission factor (MFF) protein levels. "
01/12/2021 - "We evaluated the expression of P4 synthesis partners (Metastatic Lymph Node 64 (MLN64), cholesterol side-chain cleavage (P450SCC), Hydroxy-delta-5-Steroid Dehydrogenase and 3 Beta-and steroid delta-isomerase 1 (HSD3B1)), of mitochondrial pro-fusion factors (Mitofusin 2 (Mfn2), Optic Atrophy 1 (OPA1)) and of UPR factors (Glucose-Regulated Protein 78 (GRP78), Activating Transcription Factor 4 (ATF4), Activating Transcription Factor 6 (ATF6), spliced X-box Binding Protein 1 (sXBP1)). "
10/01/2019 - "Abbreviations: ALP: autophagy-lysosome pathway; ARE: antioxidant response element; Atg8a: autophagy-related 8a; ATPsynβ: ATP synthase, β subunit; C-L: caspase-like proteasomal activity; cncC: cap-n-collar isoform-C; CT-L: chymotrypsin-like proteasomal activity; Drp1: dynamin related protein 1; ER: endoplasmic reticulum; foxo: forkhead box, sub-group O; GLU: glucose; GFP: green fluorescent protein; GLY: glycogen; Hsf: heat shock factor; Hsp: Heat shock protein; Keap1: kelch-like ECH-associated protein 1; Marf: mitochondrial assembly regulatory factor; NFE2L2/Nrf2: nuclear factor, erythroid 2 like 2; Opa1: optic atrophy 1; PN: proteostasis network; RNAi: RNA interference; ROS: reactive oxygen species; ref(2)P: refractory to sigma P; SQSTM1: sequestosome 1; SdhA: succinate dehydrogenase, subunit A; T-L: trypsin-like proteasomal activity; TREH: trehalose; UAS: upstream activation sequence; Ub: ubiquitin; UPR: unfolded protein response; UPP: ubiquitin-proteasome pathway."
7. Cisplatin (Platino)FDA LinkGeneric
8. PPAR gammaIBA
09/01/2017 - "Furthermore, trimetazidine improved mitochondrial biosynthesis and fission/fusion, as demonstrated by the promotion of peroxisome proliferator-activated receptor gamma (PPARγ) co-activator 1α (PGC-1α), mitofusins 1 (Mfn1), dynamin-related protein 1 (Drp1), and optic atrophy 1 (Opa1) expressions in rats with acute myocardial ischemia. "
01/01/2020 - "In addition, silibinin treatment increases mitochondrial fusion through down-regulating the expression of mitochondrial fission-associated protein dynamin-related protein 1 (DRP1) and up-regulating the expression of mitochondrial fusion-associated proteins, optic atrophy 1, mitofusin 1 and mitofusin 2. Silibinin perturbed mitochondrial biogenesis via down-regulating the levels of mitochondrial biogenesis regulators including mitochondrial transcription factor A (TFAM), peroxisome proliferator-activated receptor gamma coactivator (PGC1) and nuclear respiratory factor (NRF2). "
03/01/2016 - "Liver mPTP susceptibility through osmotic swelling, mPTP-related proteins (cyclophilin D, Sirtuin3, Cofilin-1), markers of mitochondrial biogenesis ((mitochondrial transcription factor A (Tfam) and peroxisome proliferator-activated receptor gamma co-activator protein (PGC-1α)), dynamics (Mitofusin 1 (Mfn1), Mitofusin 2 (Mfn2), Dynamin related protein 1, and Optic atrophy 1)), auto/mitophagy (Beclin-1, microtubule-associated protein 1 light chain 3, p62, PINK1, and Parkin), and apoptotic signaling (Bax, Bcl-2) and caspases-like activities were assessed. "
9. Fatty Acids (Saturated Fatty Acids)IBA
10. PTEN-induced putative kinaseIBA

Therapies and Procedures

1. Transplantation
2. Therapeutics
3. Injections
4. Drug Therapy (Chemotherapy)