Your browser doesn't support javascript.
loading
Review: Central nervous system involvement in mitochondrial disease.
Lax, N Z; Gorman, G S; Turnbull, D M.
Affiliation
  • Lax NZ; The Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Gorman GS; The Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Turnbull DM; The Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Neuropathol Appl Neurobiol ; 43(2): 102-118, 2017 Feb.
Article in En | MEDLINE | ID: mdl-27287935
Mitochondrial respiratory chain defects are an important cause of inherited disorders affecting approximately 1 in 5000 people in the UK population. Collectively these disorders are termed 'mitochondrial diseases' and they result from either mitochondrial DNA mutations or defects in nuclear DNA. Although they are frequently multisystem disorders, neurological deficits are particularly common, wide-ranging and disabling for patients. This review details the manifold neurological impairments associated with mitochondrial disease, and describes the efforts to understand how they arise and progressively worsen in patients with mitochondrial disease. We describe advances in our understanding of disease pathogenesis through detailed neuropathological studies and how this has spurred the development of cellular and animal models of disease. We underscore the importance of continued clinical, molecular genetic, neuropathological and animal model studies to fully characterize mitochondrial diseases and understand mechanisms of neurodegeneration. These studies are instrumental for the next phase of mitochondrial research that has a particular emphasis on finding novel ways to treat mitochondrial disease to improve patient care and quality of life.
Subject(s)
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Central Nervous System Diseases / Mitochondrial Diseases Type of study: Prognostic_studies Aspects: Patient_preference Limits: Animals / Humans Language: En Journal: Neuropathol Appl Neurobiol Year: 2017 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Central Nervous System Diseases / Mitochondrial Diseases Type of study: Prognostic_studies Aspects: Patient_preference Limits: Animals / Humans Language: En Journal: Neuropathol Appl Neurobiol Year: 2017 Document type: Article