The H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders
The mission of the H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders is to elucidate the causes and to develop treatments for neuromuscular and mitochondrial disorders using a multidisciplinary translational research approach.
Founded in 1974 by Dr. Lewis P. “Bud Rowland”, the Merritt Center originally focused on characterizing muscular dystrophies. After Dr. Rowland recruited Dr. Salvatore “Billi” DiMauro to Columbia, the Center’s research increasingly shifted to metabolic disorders with a special emphasis on mitochondrial disease.
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Attn: Matthew Reals
516 West 168th Street, 3rd Floor
New York, NY 10032
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- Associate Professor of Neurology at CUMC
Dr. Quinzii’s lab is part of the H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders and of the Initiative for Columbia Ataxia and Tremor (ICAT). Her research focuses on mitochondrial diseases, particularly coenzyme Q (CoQ) deficiencies. Her lab uses diverse methodologies, including in vitro, i.e. human iPSCs-derived cells, and mouse models, to investigate genetics and disease pathology, and test therapeutic approaches of mitochondrial diseases. Dr. Quinzii identified the first molecular defect of CoQ biosynthesis, the first molecular defect associated with secondary CoQ deficiency, and studied the pathomechanisms of CoQ deficiencies in mammalian cells and animal models. Her group was among the first to identify the function of CoQ as physiological regulator of sulfides oxidation, to report CoQ deficiency in multiple system atrophy (MSA), without mutations in COQ2, and to investigate the role of mitochondrial function, in MSA fibroblasts and neurons.
In addition, Dr, Quinzii’s group identified the first defect in RMND1, a protein of unknown function associated with mitochondrial protein synthesis defects and generated a novel mouse model to understand the function of RMND1 and the mechanism of RMND1-related diseases.
For a complete list of publications, please visit PubMed.gov.
Dr. Quinzii, PI, is Assistant Professor of Neurology at CUMC. Dr. Quinzii obtained her MD from the University of Milan (Italy) in 1999; she joined the lab of Dr. Salvatore (Billi) DiMauro as a postdoc in 2002 and joined Columbia University faculty in 2010. As a postdoctoral research fellow, Dr. Quinzii was awarded a Telethon fellowship, a Muscular Dystrophy Association Developmental grant, and a NIH K23, to investigate molecular defects and pathogenesis of CoQ deficiency. As independent investigator, she received grants from the Muscular Dystrophy Association, Department of Defense, and National Ataxia Foundation, and NIH.
Dr. Pesini, Postdoctoral fellow, obtained her PhD from the University of Zaragoza (Spain) in 2018. She joined the lab in 2020. Her research focuses on the role of lipid metabolism abnormalities in CoQ deficiencies and the role of RMND1 in mitochondrial protein synthesis.
Dr. Barriocanal-Casado, Postdoctoral fellow, obtained her PhD from the University of Granada (Spain) in 2019. She joined the lab in 2022 and she is the recipient of a grant from the Spanish Alfonso Martin Escudero Foundation. Her research focuses on the role of sulfide metabolism abnormalities in CoQ deficiency and the role of COQ4 in CoQ biosynthesis.
- Assistant Professor of Neurological Sciences (in Neurology)
Dr. Rumora’s laboratory is part of the H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders, the Center for Motor Neuron Diseases, and the Naomi Berrie Diabetes Center. Her lab studies the impact of dietary fatty acids on peripheral neuropathy in prediabetes and diabetes. Peripheral neuropathy is a debilitating and prevalent complication of type 2 diabetes and prediabetes resulting from damage to sensory neurons, but the molecular mechanisms that underlie the development of this complication are unknown. A major focus of the Rumora lab is to understand the effect of dietary fatty acids on molecular changes that regulate mitochondrial biology, transport and function in primary sensory neurons. They use a combination of in vivo murine models of diabetic and prediabetic peripheral neuropathy and in vitro cell culture models to assess the impact of fatty acids on mitochondrial biology. They found that a high-fat diet rich in saturated fatty acids leads to peripheral neuropathy in murine models of prediabetes, whereas switching these mice to a high-fat diet rich in monounsaturated fatty acids restores nerve function. Similarly, saturated fatty acids result in a loss of mitochondrial transport and function in cultured sensory neurons that is restored with monounsaturated fatty acids. They are currently assessing the potential role of sphingolipid and post-translational modifications as modulators of mitochondrial changes in sensory neurons.
For a complete list of publications, please visit PubMed.gov.
Dr. Amy Rumora: PI, is an assistant professor of Neuroscience at CUIMC. Dr. Rumora earned her PhD in biochemistry from the University of Vermont in 2014. She then completed her postdoctoral fellowship in the laboratory of Dr. Eva Feldman at the University of Michigan from 2014-2021 studying the role of mitochondrial dysfunction in diabetic neuropathy. During this time, she discovered that dietary saturated and monounsaturated fatty acids differentially regulate nerve function in murine models of prediabetes. She was awarded the NEURODIAB Young Investigator Oral Presentation Award in 2016, a Ruth L. Kirschstein Postdoctoral Independent National Research Service Award in 2017, and a K99/R00 Pathway to Independence Award in 2019. Her laboratory is currently funded by the NIH and the CUIMC Naomi Berrie Diabetes Center.
Nicolette Scott: Master’s student and technician, Nicolette Scott obtained her B.S. in Biology from Saint Peter’s University in 2021. She is currently a laboratory technician in the Rumora lab and a master's student at Columbia University's Institute of Human Nutrition. Nicolette’s research is focused on understanding the impact of dietary fatty acids on peripheral nerve inflammation in murine models of prediabetic neuropathy. She recently earned the prestigious Berrie Junior Collaborative Fund Research Award to assess the role of Kif1a mutations in mitochondrial dysfunction associated with peripheral neuropathy development in murine models.
Qinyue Wang: Undergraduate research student, Qinyue is a senior undergraduate research student in a Dual BA Program between Trinity College Dublin and Columbia University, majoring in Biomedical Science and Neuroscience and Behavior. She studies the role of sphingolipid metabolism in regulating mitochondrial transport and function in diabetic neuropathy.
Sofia Gaydos: Undergraduate research student, Sofia is a sophomore undergraduate research student majoring in Neuroscience & Behavior at Columbia University. Her research focuses on post translational modifications to the microtubules in sensory neurons that contribute to a disruption in mitochondrial transport in diet-induced neuropathy.
Anisa Thompson: Undergraduate research student, Anisa is a sophomore undergraduate research student majoring in Biochemistry at Columbia University. Her research is focused on understanding the effect of dietary fatty acids on mitophagy in diabetic neuropathy.
Salvatore DiMauro, MD
- Professor Emeritus of Neurology
Darryl C. De Vivo, MD
- Professor Emeritus of Pediatrics and Neurology