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POLG-related disorder(PEOB)

MedGen UID:
507242
•Concept ID:
CN180166
•
Disease or Syndrome
Synonyms: PEOB; POLG- Related Disorder; POLG-related condition

Professional guidelines

PubMed

Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N
Cell Death Dis 2024 Apr 20;15(4):281. doi: 10.1038/s41419-024-06622-9. PMID: 38643274Free PMC Article
Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations.
Kristiansen CK, Furriol J, Chen A, Sullivan GJ, Bindoff LA, Liang KX
FASEB J 2023 Sep;37(9):e23139. doi: 10.1096/fj.202300650RR. PMID: 37584631

Recent clinical studies

Etiology

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Bindu PS, Govindaraju C, Sonam K, Nagappa M, Chiplunkar S, Kumar R, Gayathri N, Bharath MM, Arvinda HR, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K, Taly AB
Mitochondrion 2016 Mar;27:1-5. Epub 2016 Jan 4 doi: 10.1016/j.mito.2015.12.009. PMID: 26762927

Diagnosis

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D
Metab Brain Dis 2018 Aug;33(4):1369-1373. Epub 2018 Mar 25 doi: 10.1007/s11011-018-0218-2. PMID: 29574624
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Bindu PS, Govindaraju C, Sonam K, Nagappa M, Chiplunkar S, Kumar R, Gayathri N, Bharath MM, Arvinda HR, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K, Taly AB
Mitochondrion 2016 Mar;27:1-5. Epub 2016 Jan 4 doi: 10.1016/j.mito.2015.12.009. PMID: 26762927
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.
Lam CW, Law CY, Siu WK, Fung CW, Yau MM, Huen KF, Lee HH, Mak CM
Clin Chim Acta 2015 Aug 25;448:211-4. Epub 2015 Jul 11 doi: 10.1016/j.cca.2015.06.028. PMID: 26169155

Clinical prediction guides

Rod bipolar cell dysfunction in POLG retinopathy.
Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A
Doc Ophthalmol 2021 Feb;142(1):111-118. Epub 2020 Jun 21 doi: 10.1007/s10633-020-09777-w. PMID: 32567010

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