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A mitochondrion is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used throughout the cell as a source of chemical energy. They were discovered by Albert von Kölliker in 1857 in the voluntary muscles of insects. The term mitochondrion was coined by Carl Benda in 1898. The mitochondrion is popularly nicknamed the "powerhouse of the cell", a phrase coined by Philip Siekevitz in a 1957 article of the same name.
Mitochondrial DNA is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts.
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Roswell Park Comprehensive Cancer Center is a cancer research and treatment center located in Buffalo, New York. Founded by surgeon Roswell Park in 1898, the center was the first in the United States to specifically focus on cancer research. The center is usually called Roswell Park in short. The center, which conducts clinical research on cancer as well as the development new drugs, provides advanced treatment for all forms of adult and pediatric cancer, and serves as a member of the National Comprehensive Cancer Network. Roswell Park Comprehensive Cancer Center is as of 2019, the only upstate New York facility to hold the National Cancer Institute designation of "comprehensive cancer center".
Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are heteroplasmic. It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors.
Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA. The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.
The MRC Mitochondrial Biology Unit is a department of the School of Clinical Medicine at the University of Cambridge, funded through a strategic partnership between the Medical Research Council and the University. It is located at the Addenbrooke’s Hospital / Cambridge Biomedical Campus site in Cambridge, England. The unit is concerned with the study of the mitochondrion, as this organelle has a varied and critical role in many aspects of eukaryotic metabolism and is implicated in many metabolic, degenerative, and age-related human diseases.
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns–Sayre syndrome. It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than a hundred cases have been reported in medical literature worldwide.
Cytochrome c oxidase I (COX1) also known as mitochondrially encoded cytochrome c oxidase I (MT-CO1) is a protein that is encoded by the MT-CO1 gene in eukaryotes. The gene is also called COX1, CO1, or COI. Cytochrome c oxidase I is the main subunit of the cytochrome c oxidase complex. In humans, mutations in MT-CO1 have been associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent myoglobinuria.
Mitochondrial Rho GTPase 1 (MIRO1) is an enzyme that in humans is encoded by the RHOT1 gene on chromosome 17. As a Miro protein isoform, the protein facilitates mitochondrial transport by attaching the mitochondria to the motor/adaptor complex. Through its key role in mitochondrial transport, RHOT1 is involved in mitochondrial homeostasis and apoptosis, as well as Parkinson’s disease (PD) and cancer.
Mitochondrial Rho GTPase 2 is an enzyme that in humans is encoded by the RHOT2 gene. As a Miro protein isoform, the protein facilitates mitochondrial transport by attaching the mitochondria to the motor/adaptor complex. Through its key role in mitochondrial transport, RHOT2 is involved in mitochondrial homeostasis and apoptosis, as well as Parkinson’s disease (PD).
Victor Darley-Usmar is a free-radical biologist and biochemist, the UAB Endowed Professor in Mitochondrial Medicine and Pathology at the University of Alabama at Birmingham. Darley-Usmar also contributed to a book titled Microbes, Bugs & Wonder Drugs, a science book written for young readers and their families.
James K. Kirklin is an American cardiac surgeon who has made significant scientific and surgical contributions in the fields of heart transplantation and mechanical circulatory support devices to assist the pumping action of the heart. He was formerly Professor of Surgery (1987-2022), Director of the Division of Cardiothoracic Surgery (2006-2016), Director of the James and John Kirklin Institute for Research in Surgical Outcomes (KIRSO) (2016–2022), and Co-Director of Comprehensive Cardiovascular Center (2011-2017) at the University of Alabama at Birmingham (UAB). While at UAB, he held the UAB Cardiovascular Research Chair (1998-2006), the John Kirklin Chair of Cardiovascular Surgery (2006-2017), and the James Kirklin Chair of Cardiothoracic Surgery (2017-2022).
Aleksandra Filipovska is a Professor, Deputy Director of the ARC Centre of Excellence in Synthetic Biology and NHMRC Senior Research Fellow at the University of Western Australia, heading a research group at the Telethon Kids Institute. Specializing in biochemistry and molecular biology, she has made contributions to the understanding of human mitochondrial genetics in health and disease.
Sir Douglass Matthew Turnbull is Professor of Neurology at Newcastle University, an Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust and a director of the Wellcome Trust Centre for Mitochondrial Research.
Kochupurackal P. Mohanakumar is an Indian chemical biologist, neuroscientist and the director of Inter University Centre for Biomedical Research and Super Specialty Hospital, Kottayam. He is a former chief scientist at the Indian Institute of Chemical Biology and is known for his studies on Parkinson's disease and Huntington’s disease. The Department of Biotechnology of the Government of India awarded him the National Bioscience Award for Career Development, one of the highest Indian science awards, for his contributions to biosciences in 2000.
David R. Gius is an American physician-scientist the Zell Family Scholar Professor, Women's Cancer Research Program director, and Vice Chair of Translational Research at Northwestern University's Feinberg School of Medicine Department of Radiation Oncology and Pharmacology. His research focuses into the mechanistic connection between aging, cellular and/or mitochondrial metabolism, and carcinogenesis focusing on the Sirtuin gene family.
Robert K. Naviaux is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. Naviaux proposed the cell danger response (CDR) and hyperpurinergia hypothesis for complex disorders in 2014 and directed the first FDA-approved clinical trial to study the safety and efficacy of the antipurinergic drug suramin as a new treatment for autism spectrum disorder (ASD).
Roberta Anne Gottlieb is an American oncologist, academic, and researcher. She is a Professor, and Vice-Chair of Translational Medicine in the Department of Biomedical Sciences at Cedars-Sinai Medical Center, and a Professor of Medicine at the University of California, Los Angeles.
Karine Sargsyan is an Armenian-Austrian medical doctor, geneticist, research manager, biobanker, researcher, and educator. She currently serves as the Scientific Director of Oncobiobank at Cedars-Sinai Medical Center in Beverly Hills, California, US, and Managing Director for International Biobanking and Education at Medical University of Graz, Austria, since 2019. She is also an initiator and Vice Scientific Leader, and Lecturer of the first Bologna conform M.Sc. Biobanking since 2016 and University Course Artificial Intelligence in Medicine at the Medical University of Graz starting in 2022. She was one of the pioneers who spoke about quality measures and regulation requirements in the biobanking field and is also a pioneer in biobanking education. She is lecturing at Cedars Sinai, at Msc Biobanking at MedUniGraz, Austria, at MSc in Biobanks & Complex Data Management at Université Côte d’Azur, Nice, France, and at the Institute of medical Genetics at Yerevan State Medical University, Armenia. Previously, she was the founding managing director of Biobank Graz and directed it from 2007 to 2019. Sargsyan was Scientific Director of Competence Center BioPersMed (2009-2011). She was acting president of ESBB from September 2022 to May 2023.
References
- ↑ Elsevier, "Mitochondrion Journal", 2015, "(", February 6th, 2016
- ↑ Mitochondria Research and Medicine Society, "Committees", 2015, "(", February 6th, 2016
- ↑ Society for Mitochondrial Research and Medicine, "Executive Board", 2015, "(", February 20th, 2016
- ↑ Singh, Keshav K. "MIPIGENETICS and MIPIGENOMICS: Integrating mitochondria-induced mayhem contributing to mystondria." Mitochondrion 24 (2015): S6.
- ↑ Mitochondria.org, "Keshav K. Singh Profile", 2006, "(", February 6th, 2016
- ↑ UAB, "Faculty Data", 2014, "(", February 6th, 2016
- ↑ Elsevier, "Mitochondrion Journal", 2015, "(", February 6th, 2016
- ↑ Mitochondria Research and Medicine Society, "Genesis", 2015, "(", February 6th, 2016