Marilena D'Aurelio, Ph.D.

My line of research focuses on the pathogenic mechanisms of mitochondrial diseases. We believe that a multi organ response to OXPHOS defects results in a systemic pathogenic metabolic dyshomeostasis that can be targeted by metabolic intervention. In recent work, by integrating mitochondrial biology and bioenergetics with LC/MS-based metabolomic/proteomic/isotope tracing technologies through excellent collaborators, we have provided novel insights into the mechanisms of mitochondrial myopathy. Our main goal is to obtain strong mechanistic evidence that support the development of novel metabolic therapies to oppose mitochondrial disease progression.

Relevant Publications

Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M. Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations. Cell Metab. 2018 May 1;27(5):1007-1025. PMID: 29657030.

Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, Alam S, Liparulo I, Shurubor YI, Valentino ML, Carelli V, Servidei S, Gross SS, Manfredi G, Chen Q, D'Aurelio M. A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. EMBO Mol Med. 2023 Jul 10;15(7):e16951. PMID: 37222423.

Full List of Published Work from My Bibliography:

Active Funding

R01 AR076029-01A1 (D’Aurelio and Chen, MPIs) NIH/NIAMS 04/01/2020– 03/31/2024

Metabolic remodeling of skeletal muscle in mitochondrial myopathies

The major goals of this project are to comprehensively define the metabolic remodeling that occurs in OXPHOS defective muscle and to develop novel metabolite supplementation strategies that sustain muscle function in the setting of mitochondrial disease.

Weill Cornell Medicine Mitochondria and Neurodegeneration Lab 407 East 61st Street, 5th Floor New York, NY 10065 Phone: (646) 962-8271