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Lookup NU author(s): Dr Hannah GillespieORCiD, Dr Yi NgORCiD, Dr Katrina Wood, Sila Hopton, Dr Charlotte Alston, Professor Robert TaylorORCiD, Andrew Browning, Professor Bobby McFarlandORCiD, Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2025. The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in the MT-TL1 gene encoding tRNALeu(UUR). Here, we present a case of a patient with a rarer m.3243A > T variant whose phenotype was severe and included delayed growth, developmental delay, myoclonic jerks and tonic–clonic seizures, progressive myopathy, cerebellar ataxia, severe malnutrition due to intestinal dysmotility despite naso-jejunal feeding requiring total parenteral nutrition, bilateral sensorineural hearing loss, and visual impairment, including bilateral cataracts requiring treatment and pigmentary retinopathy. At age 18 years, he developed severe nephrotic syndrome secondary to a membranoproliferative pattern of glomerular injury, which was resistant to treatment and led to premature death.
Author(s): Gillespie H, Ng YS, Wood KM, Hopton S, Alston CL, Blakely EL, Thompson N, Taylor RW, Browning AC, McFarland R, Sayer JA
Publication type: Article
Publication status: Published
Journal: Journal of Rare Diseases
Year: 2025
Volume: 4
Online publication date: 08/08/2025
Acceptance date: 24/07/2025
Date deposited: 26/01/2026
ISSN (electronic): 2731-085X
Publisher: Springer Nature
URL: https://doi.org/10.1007/s44162-025-00110-0
DOI: 10.1007/s44162-025-00110-0
Data Access Statement: No datasets were generated or analysed during the current study.
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