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Listen "IMD Research Round-Up: Mitochondrial disease"
Episode Synopsis
The Research Round-Up returns! Hosts Silvia Radenkovic and Rodrigo Starosta are joined by Dr Hilary Vernon and Dr Austin Larson for a deep dive into the latest discoveries in mitochondrial disease.
Together they explore how new biomarkers like FGF21 and GDF15 are reshaping diagnosis, how multi-omics approaches are accelerating precision care, and what large-scale data from gnomAD to stem-cell models is revealing about disease mechanisms and therapeutic opportunities.
A lively, expert-led discussion connecting science, diagnostics, and patient impact across the mitochondrial field.
Laricchia KM, et al
Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. PMID: 35074858; PMCID: PMC8896463.
Liu O, et al
FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures. Mol Genet Metab. 2023 Nov;140(3):107676. doi: 10.1016/j.ymgme.2023.107676. Epub 2023 Aug 2. PMID: 37549445.
Van Hove JLK, et al
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. Erratum in: Hepatol Commun. 2024 Jan 29;8(2):e0390. doi: 10.1097/HC9.0000000000000390. PMID: 38180987; PMCID: PMC10781130.
Starosta RT, et al
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. PMID: 39413893; PMCID: PMC11578067.
Jain IH, et al
Hypoxia as a therapy for mitochondrial disease. Science. 2016 Apr 1;352(6281):54-61. doi: 10.1126/science.aad9642. Epub 2016 Feb 25. PMID: 26917594; PMCID: PMC4860742
Sandlers Y, et al
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. PLoS One. 2016 Mar 25;11(3):e0151802. doi: 10.1371/journal.pone.0151802. PMID: 27015085; PMCID: PMC4807847.
Sniezek Carney O, et al.
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. Hum Mol Genet. 2025 Jan 23;34(1):101-115. doi: 10.1093/hmg/ddae152. PMID: 39535077; PMCID: PMC11756277.
Together they explore how new biomarkers like FGF21 and GDF15 are reshaping diagnosis, how multi-omics approaches are accelerating precision care, and what large-scale data from gnomAD to stem-cell models is revealing about disease mechanisms and therapeutic opportunities.
A lively, expert-led discussion connecting science, diagnostics, and patient impact across the mitochondrial field.
Laricchia KM, et al
Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. PMID: 35074858; PMCID: PMC8896463.
Liu O, et al
FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures. Mol Genet Metab. 2023 Nov;140(3):107676. doi: 10.1016/j.ymgme.2023.107676. Epub 2023 Aug 2. PMID: 37549445.
Van Hove JLK, et al
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. Erratum in: Hepatol Commun. 2024 Jan 29;8(2):e0390. doi: 10.1097/HC9.0000000000000390. PMID: 38180987; PMCID: PMC10781130.
Starosta RT, et al
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. PMID: 39413893; PMCID: PMC11578067.
Jain IH, et al
Hypoxia as a therapy for mitochondrial disease. Science. 2016 Apr 1;352(6281):54-61. doi: 10.1126/science.aad9642. Epub 2016 Feb 25. PMID: 26917594; PMCID: PMC4860742
Sandlers Y, et al
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. PLoS One. 2016 Mar 25;11(3):e0151802. doi: 10.1371/journal.pone.0151802. PMID: 27015085; PMCID: PMC4807847.
Sniezek Carney O, et al.
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. Hum Mol Genet. 2025 Jan 23;34(1):101-115. doi: 10.1093/hmg/ddae152. PMID: 39535077; PMCID: PMC11756277.
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