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The Mitochondrion and its Disorders

Department of Neurology, Regional Neurosciences Centre, Newcastle General Hospital and the University of Newcastle upon Tyne, UK. Email: P.F.Chinnery{at}ncl.ac.uk

EXTRACT

Mitochondria are ubiquitous intracellular organelles that play a pivotal role in cellular energy metabolism. It therefore should come as no surprise that mitochondrial dysfunction can cause neurological disease. These disorders are not rare; each UK neurologist will have at least 20 patients with mitochondrial disease within their catchment area of about 200 000 people. This short article will focus on the basic science that underpins our current understanding of mitochondrial disease. It will stick to the bare essential facts that will help the busy neurologist to identify, investigate and manage these fascinating and challenging patients.

The tables should serve as a useful reference. Table 1 illustrates the clinical relevance of the basic science described in this article, but the reader should be aware that it will soon be out of date. Table 2 lists the features associated with well–recognized mitochondrial ‘syndromes’.

MITOCHONDRIA AND MITOCHONDRIAL DISORDERS: WHAT ARE THEY?

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