MitoPhenomics

MitoPhenomics lab aims to understand the role of the small, understudied, circles of DNA in mitochondria (mtDNA) in metabolism and cell signaling in health and disease.

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Identify new mechanisms and novel targets involved in mitochondrial disease

Understanding mtDNA variation on oncogenesis

Iacopo Bicci,* Claudia Calabrese, Zoe J Golder, Aurora Gomez-Duran, Patrick F Chinnery. Nucleic Acids Research, gkab1179, https://doi.org/10.1093/nar/gkab1179
co-first authors [2021]. Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Cai N, Gomez-Duran A, Yonova-Doing E, Kundu K, Burgess AI, Golder ZJ, Calabrese C, Bonder MJ, Camacho M, Lawson RA, Li L, Williams-Gray CH; ICICLE-PD Study Group, Di Angelantonio E, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, Stewart ID, Pietzner M, Wareham NJ, Langenberg C, Danesh J, Walter K, Rothwell PM, Howson JMM, Stegle O, Chinnery PF, Soranzo N.
Nature Medicine *co-first authors [2021]. Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

Yonova-Doing E, Calabrese C, Gomez-Duran A, Schon K, Wei W, Karthikeyan S, Chinnery PF, Howson JMM
Nature Genetics
*co-first authors [2021]. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

Pezet MG, Gomez-Duran A, Klimm F, Aryaman J, Burr S, Wei W, Saitou M, Prudent J, Chinnery PF.
[2020]. Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. [2020]. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF.
Embo Mol Med *co-first authors [2020]. Metabolic effects of bezafibrate in mitochondrial disease.

All Publications

2022-2024: Garantía Juvenil (PEJ-2021-AI/BMD-21431). P. Investigator: Grado I.

2022: Ayuda a la investigación en enfermedades raras de la Fundación Mehuer, del Real e Ilustre Colegio Oficial de Farmacéuticos de Sevilla. P. Investigator. 25K€

2021-2026: Ramon y Cajal Fellowship (RYC2020-029291-I). P. Investigator.

2021-2025: Beca de Neurociencias Fundación Tatiana to Carmen Linares. P. Investigator: 99.8K€

2021-2024: Plan Nacional Retos (PID2020-114709RA-I00). P. Investigator. 168K€.

2021-2023: Garantía Juvenil (PEJ-2020-AI/BMD-17829). P. Investigator: Grado I. 45K€

2020-2021: JAE Intro (BDNS:497093) to Carmen Linares. P. Investigator: 3K€ (5 months)

2020-2024 (+1): Talento Mod.1 CAM (2019-T1/BMD-14236). P. Investigator. 398,4K€. Spain

Predoctoral Fellowship

Understand the role of mtDNA variation in oncogenesis.

Laboratory

MitoPhenomics

CIB Contact

Current Master and Graduate students:

- 2022. Carmen Sánchez Macías. Summer student. Universidad de Castilla la Mancha

- 2022. Diego Gonzalez Pérez. TFM student. Máster en Nutrigenómica y Nutrición Personalizada. Universidad de las Islas Baleares

Who are we recruiting?

We are looking forward to meet motivated, in and out of the box scientists of all levels to join us.

Please contact Aurora asap!

We support inclusive science with no discrimination and actively work to achieve gender equality in science.

mitowomen

Alumni

- 2021.Virginia Garcia Calvo. TFM student. Master in Molecular and Cellular Integrative Biology. IUMP-CIB-CSIC

- 2021.Amanda Guitián Caamaño. PhD candidate. Visitor from Mayan's Lab INIBIC-A Coruña.

- 2021.Ignacio Monar Redondo. TFM student. Master in Biomolecules and Cell Dynamics. UAM. Mark: 9.8

- 2020.Ignacio Monar Redondo. TFG student. Grado en Biotecnología. Universidad Francisco de Victoria.

Group Leader/s

intro

Research lines

Identify new mechanisms and novel targets involved in mitochondrial disease

Understanding mtDNA variation on oncogenesis

Members

Selected Publications

Iacopo Bicci,* Claudia Calabrese, Zoe J Golder, Aurora Gomez-Duran, Patrick F Chinnery. Nucleic Acids Research, gkab1179, https://doi.org/10.1093/nar/gkab1179
co-first authors [2021]. Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Yonova-Doing E, Calabrese C, Gomez-Duran A, Schon K, Wei W, Karthikeyan S, Chinnery PF, Howson JMM
Nature Genetics
*co-first authors [2021]. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

Pezet MG, Gomez-Duran A, Klimm F, Aryaman J, Burr S, Wei W, Saitou M, Prudent J, Chinnery PF.
[2020]. Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF.
Embo Mol Med *co-first authors [2020]. Metabolic effects of bezafibrate in mitochondrial disease.

Funding

Fellowships and jobs

Understand the role of mtDNA variation in oncogenesis.

More info

Group Leader/s

intro

Research lines

Identify new mechanisms and novel targets involved in mitochondrial disease

Understanding mtDNA variation on oncogenesis

Members

Selected Publications

Iacopo Bicci,* Claudia Calabrese*, Zoe J Golder, Aurora Gomez-Duran, Patrick F Chinnery. Nucleic Acids Research, gkab1179, https://doi.org/10.1093/nar/gkab1179 *co-first authors [2021]. Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Yonova-Doing E*, Calabrese C*, Gomez-Duran A, Schon K, Wei W, Karthikeyan S, Chinnery PF, Howson JMM Nature Genetics *co-first authors [2021]. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

Pezet MG, Gomez-Duran A, Klimm F, Aryaman J, Burr S, Wei W, Saitou M, Prudent J, Chinnery PF. [2020]. Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

Funding

Fellowships and jobs

Understand the role of mtDNA variation in oncogenesis.

More info

Iacopo Bicci,* Claudia Calabrese, Zoe J Golder, Aurora Gomez-Duran, Patrick F Chinnery. Nucleic Acids Research, gkab1179, https://doi.org/10.1093/nar/gkab1179
co-first authors [2021]. Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Yonova-Doing E, Calabrese C, Gomez-Duran A, Schon K, Wei W, Karthikeyan S, Chinnery PF, Howson JMM
Nature Genetics
*co-first authors [2021]. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

Pezet MG, Gomez-Duran A, Klimm F, Aryaman J, Burr S, Wei W, Saitou M, Prudent J, Chinnery PF.
[2020]. Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro