Work

Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease

Year: 2012

Type: article

Study design: Observational Study

Abstract: Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.

Source: Annals of Neurology

DOI: 10.1002/ana.23568

Authors: Michael T. Lin, Ippolita Cantuti‐Castelvetri, Kangni Zheng, Katie E. Jackson, Yong B. Tan, Thomas Arzberger, Andrew J. Lees, Rebecca A. Betensky, M. Flint Beal, David K. Simon

Institutions: Weill Cornell Medicine, Harvard University, Massachusetts General Hospital, Beth Israel Deaconess Medical Center, Institut für Neuropathologie, Ludwig-Maximilians-Universität München, UCL Queen Square Institute of Neurology, University College London

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute on Aging, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, National Center for Research Resources

Awards: Mitochondrial Dysfunction in Alzheimer's Disease, G2079654663, G296957197, A National Resource for Postmortem Brain Research, Harvard Clinical and Translational Science Center (UL1), Oxidative Stress, alpha-Synuclein, and mtDNA Mutations in Parkinson's Disease, MGH/MIT MORRIS UDALL CENTER OF EXCELLENCE IN PD RESEARCH, Acquired Mitochondrial DNA Mutations in the Brain, Massachusetts Alzheimer's Disease Research Center, Somatic Mitochondrial DNA Mutations in Neurons and Glia

OpenAlex ID: W2018287672

FWCI: 4.958

Cites: 21

Cited by: 124

Related to: 10