Mitochondrial A3243G mutation results in corneal endothelial polymegathism

Abstract

In patients with the mitochondrial DNA point mutation A3243G, corneal endothelial polymegathism is present. This is mainly associated with mild guttata. The findings of corneal endothelial cell polymegathism may be a biomarker of mitochondrial disease, specifically in patients with the mitochondrial DNA A3243G mutation.

Mitochondrial A3243G mutation results in corneal endothelial polymegathism

“…Macular dystrophy due to the mitochondrial DNA (mtDNA) A3243G point mutation can manifest with associated ocular and systemic features that are important for specialists to identify [1]. Our case series suggests that corneal endothelial polymegathism is associated with mtDNA A3243G mutations, and in agreeance with the responding authors, our original submission emphasizes that future prospective studies are necessary to determine the utility of corneal endothelial polymegathism as a biomarker for mitochondrial diseases [2].…”

“…Macular dystrophy due to the mitochondrial DNA (mtDNA) A3243G point mutation can manifest with associated ocular and systemic features that are important for specialists to identify [1]. Our case series suggests that corneal endothelial polymegathism is associated with mtDNA A3243G mutations, and in agreeance with the responding authors, our original submission emphasizes that future prospective studies are necessary to determine the utility of corneal endothelial polymegathism as a biomarker for mitochondrial diseases [2].The aim of our observational study was to report and characterize a novel corneal finding in this disease entity in crosssection, rather than conduct a longitudinal study assessing the clinical manifestations of the mitochondrial DNA point mutation A3243G and treatment options. As such, it was not feasible to assess for subclinical manifestations in other organ systems or recruit family members for further evaluation by virtue of our study design.…”

Cornealis polymegathismus és retinalis pigmenthám-eltérések MELAS-szindrómában

“…Specular mikroszkópos vizsgálattal korábbi esettanulmányok a cornealis endothelium polymegathismusát mutatták ki. Ugyan a betegek esetében mérhető sejtszám és az átlagos sejtméret is az egészséges populációban mérhető adatokkal megegyező volt, azonban a sejtek mérete jelentős variabilitást mutatott, számos átlagosnál nagyobb sejtet találtak, amelyek mellett jóval kisebb méretűek helyezkedtek el (2). Az elülső szegmentum vizsgálata során foltos íriszatrófiát is megfigyeltek.…”

“…A Emellett nem találtak kóros mitokondriumokat a Müller-sejtekben (4). Az irodalomban ismert MEL-AS-betegeknél szintén megfigyelték az életkori átlagnak megfelelő endothelsejtszám-denzitást, azonban a kvalitatív analízis minden esetben megnagyobbodott endothelsejtek jelenlétét mutatta ki, főként a cornea perifériáján (2). Ismert, hogy cukorbetegségben fokozott a cornea endothelialis polymegathismusa (1), azonban az általunk vizsgált 3 nőbeteg közül csak az anya volt igazolt cukorbeteg, a cornea endothelsejtjeinek méretbeli heterogenitását azonban mindhármuk esetén megtaláltuk.…”

Deregulated Mitochondrial DNA in Diseases

“…1 and Table 3). Mutation 3243A>G in MT-TL1 serves as several aging outcomes and appears in corneal endothelial polymegathism (Bakhoum et al, 2018;Tranah et al, 2018). Therefore, the 3243A>G point mutation was thought of as a potential biomarker for mitochondrial disorders.…”