Mitochondrial disorders in adults

A. Toscano, O. Musumeci

Research output: Contribution to journalArticle

Abstract

Mitochondrial Disorders (MD) include a heterogeneous group of inherited disorders due to molecular defects mainly affecting the mitochondrial oxidative phosphorylation system. Because the respiratory chain is under control of two different genomes (nuclear DNA-nDNA and mitochondrial DNA-mtDNA), mitochondrial genetics is quite complex and may justify the extreme clinical heterogeneity of these diseases. Clinically, MD usually involve multiple tissues, mainly affecting organs with high energy request as central nervous system and skeletal muscle. They may present at any age, with different onsets, clinical presentation and progression from an isolated involvement of vision or hearing to a multisystemic degenerative disorders with stroke-like episodes, peripheral neuropathy, ophthalmoparesis, seizures, cardiopathy, hepatopathy, endocrinopathies, etc. Over the last 50 years, it became evident that MD represent an important part of the general medicine. The complexity of clinical and genetic spectrum of those disorders is still increasing. The aim of this review is to walk through mitochondrial genetics, highlighting novel clinical entities.

Original languageEnglish
Pages (from-to)1001-1008
Number of pages8
JournalCurrent Molecular Medicine
Volume14
Issue number8
Publication statusPublished - Mar 1 2014

Fingerprint

Mitochondrial Diseases
Mitochondrial DNA
Audition
Neurology
Medicine
Muscle
Ophthalmoplegia
DNA
Genes
Oxidative Phosphorylation
Peripheral Nervous System Diseases
Tissue
Electron Transport
Defects
Hearing
Skeletal Muscle
Seizures
Central Nervous System
Stroke
Genome

Keywords

  • Adults
  • Mitochondrial disorders
  • mtDNA
  • Multisystem
  • Myopathies

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine

Cite this

Toscano, A., & Musumeci, O. (2014). Mitochondrial disorders in adults. Current Molecular Medicine, 14(8), 1001-1008.

Mitochondrial disorders in adults. / Toscano, A.; Musumeci, O.

In: Current Molecular Medicine, Vol. 14, No. 8, 01.03.2014, p. 1001-1008.

Research output: Contribution to journalArticle

Toscano, A & Musumeci, O 2014, 'Mitochondrial disorders in adults', Current Molecular Medicine, vol. 14, no. 8, pp. 1001-1008.
Toscano A, Musumeci O. Mitochondrial disorders in adults. Current Molecular Medicine. 2014 Mar 1;14(8):1001-1008.
Toscano, A. ; Musumeci, O. / Mitochondrial disorders in adults. In: Current Molecular Medicine. 2014 ; Vol. 14, No. 8. pp. 1001-1008.
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