A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features

The Medical School, Newcastle University, Newcastle upon Tyne, Enlgand.
Archives of neurology (Impact Factor: 7.42). 04/2009; 66(3):399-402. DOI: 10.1001/archneurol.2008.576
Source: PubMed


Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent.
To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient Case report of a 49-year-old woman presenting with a myoclonic epilepsy with ragged-red fibers-like disease comprising myoclonic jerks, cerebellar ataxia, and proximal muscle weakness.
Histochemical analysis of a muscle biopsy revealed numerous cytochrome-c oxidase-deficient, ragged-red fibers, while biochemical studies indicated decreased activity of respiratory chain complex I. Molecular investigation of mitochondrial DNA revealed a new heteroplasmic mutation in the TpsiC stem of the mitochondrial transfer RNA(Pro) gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers.
Our case serves to illustrate the ever-evolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.

5 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: The main variables affecting the sorbent sulfation are studied in this chapter through the knowledge of the sulfation conversion and the evolution of the porous system of the sorbent in different conditions. A direct relation between chemical structure and sorbent reactivity is not found. The sorbents with a widespread pore size distribution with pores above 100 Å showed the highest reactivity and sulfation capacity, maintaining pores of small size at all times and operating conditions. In the less reactive sorbents, the pores under 80 Å became blocked during sulfation, being more sensitive to the effect of the different operating variables affecting the sulfation process.
    No preview · Article · Dec 1995
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: This chapter provides a review of the pedogenisis and pedogenic models proposed for the formation of the Vertisols
    Full-text · Chapter · Jan 1996
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects. Since the identification of the first human pathological mitochondrial DNA (mtDNA) mutations in 1988, significant efforts have been spent in cataloguing the vast array of causative genetic defects of these disorders. Currently, more than 250 pathogenic mtDNA mutations have been identified. An ever-increasing number of nuclear DNA mutations are also being reported as the majority of proteins involved in mitochondrial metabolism and maintenance are nuclear-encoded. Understanding the phenotypic diversity and elucidating the molecular mechanisms at the basis of these diseases has however proved challenging. Progress has been hampered by the peculiar features of mitochondrial genetics, an inability to manipulate the mitochondrial genome, and difficulties in obtaining suitable models of disease. In this review, we will first outline the unique features of mitochondrial genetics before detailing the diseases and their genetic causes, focusing specifically on primary mtDNA genetic defects. The functional consequences of mtDNA mutations that have been characterised to date will also be discussed, along with current and potential future diagnostic and therapeutic advances.
    Full-text · Article · Sep 2009 · Biochimica et Biophysica Acta
Show more