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  • Wiley  (4)
  • Mayr, Johannes A.  (4)
  • 1
    Online Resource
    Online Resource
    Spectrum of combined respiratory chain defects
    Wiley ; 2015
    In:  Journal of Inherited Metabolic Disease Vol. 38, No. 4 ( 2015-07), p. 629-640
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 38, No. 4 ( 2015-07), p. 629-640
    Abstract: Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate‐generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis. Deficiency of more than one respiratory chain enzyme is a common finding. Combined defects are found in 49 % of the known disease‐causing genes of mitochondrial energy metabolism and in 57 % of patients with OXPHOS defects identified in our diagnostic centre. Combined defects of complexes I, III, IV and V are typically due to deficiency of mitochondrial DNA replication, RNA metabolism or translation. Defects in cofactors can result in combined defects of various combinations, and defects of mitochondrial homeostasis can result in a generalised decrease of all OXPHOS enzymes. Noteworthy, identification of combined defects can be complicated by different degrees of severity of each affected enzyme. Furthermore, even defects of single respiratory chain enzymes can result in combined defects due to aberrant formation of respiratory chain supercomplexes. Combined OXPHOS defects have a great variety of clinical manifestations in terms of onset, course severity and tissue involvement. They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome in a subset of disorders.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-015-9831-y
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2006875-X
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  • 2
    Online Resource
    Online Resource
    The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
    Wiley ; 2015
    In:  Journal of Inherited Metabolic Disease Vol. 38, No. 3 ( 2015-05), p. 391-403
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 38, No. 3 ( 2015-05), p. 391-403
    Abstract: Pyruvate oxidation defects (PODs) are among the most frequent causes of deficiencies in the mitochondrial energy metabolism and represent a substantial subset of classical mitochondrial diseases. PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by various disorders recently described in the whole pyruvate oxidation route including cofactors, regulation of PDHC and the mitochondrial pyruvate carrier. Our own patients from 2000 to July 2014 and patients identified by a systematic survey of the literature from 1970 to July 2014 with a pyruvate oxidation disorder and a genetically proven defect were included in the study (n=628). Of these defects 74.2% (n=466) belong to PDHC subunits, 24.5% (n=154) to cofactors, 0.5% (n=3) to PDHC regulation and 0.8% (n=5) to mitochondrial pyruvate import. PODs are underestimated in the field of mitochondrial diseases because not all diagnostic centres include biochemical investigations of PDHC in their routine analysis. Cofactor and transport defects can be missed, if pyruvate oxidation is not measured in intact mitochondria routinely. Furthermore deficiency of the X‐chromosomal PDHA1 can be biochemically missed depending on the X‐inactivation pattern. This is reflected by an increasing number of patients diagnosed recently by genetic high throughput screening approaches. PDHC deficiency including regulation and import affect mainly the glucose dependent central and peripheral nervous system and skeletal muscle. PODs with combined enzyme defects affect also other organs like heart, lung and liver. The spectrum of clinical presentation of PODs is still expanding. PODs are a therapeutically interesting group of mitochondrial diseases since some can be bypassed by ketogenic diet or treated by cofactor supplementation. PDHC kinase inhibition, chaperone therapy and PGC1α stimulation is still a matter of further investigations.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-014-9787-3
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2006875-X
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  • 3
    Online Resource
    Online Resource
    Mitochondrial Disease and Hearing Loss in Children: A Systematic Review
    Wiley ; 2022
    In:  The Laryngoscope Vol. 132, No. 12 ( 2022-12), p. 2459-2472
    Details
    In: The Laryngoscope, Wiley, Vol. 132, No. 12 ( 2022-12), p. 2459-2472
    Abstract: Hearing loss is a clinical symptom, frequently mentioned in the context of mitochondrial disease. With no cure available for mitochondrial disease, supportive treatment of clinical symptoms like hearing loss is of the utmost importance. The aim of this study was to summarize current knowledge on hearing loss in genetically proven mitochondrial disease in children and deduce possible and necessary consequences in patient care. Methods Systematic literature review, including Medline, Embase, and Cochrane library. Review protocol was established and registered prior to conduction (International prospective register of systematic reviews—PROSPERO: CRD42020165356). Conduction of this review was done in accordance with MOOSE criteria. Results A total of 23 articles, meeting predefined criteria and providing sufficient information on 75 individuals with childhood onset hearing loss was included for analysis. Both cochlear and retro‐cochlear origin of hearing loss can be identified among different types of mitochondrial disease. Analysis was hindered by inhomogeneous reporting and methodical limitations. Conclusion Overall, the findings do not allow for a general statement on hearing loss in children with mitochondrial disease. Retro‐cochlear hearing loss seems to be found more often than expected. A common feature appears to be progression of hearing loss over time. However, hearing loss in these patients shows manifold characteristics. Therefore, awareness of mitochondrial disease as a possible causative background is important for otolaryngologists. Future attempts rely on standardized reporting and long‐term follow‐up. Level of Evidence NA Laryngoscope , 132:2459–2472, 2022
    Type of Medium: Online Resource
    ISSN: 0023-852X , 1531-4995
    URL: Issue
    URL: Article
    DOI: 10.1002/lary.v132.12
    DOI: 10.1002/lary.30067
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2026089-1
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  • 4
    Online Resource
    Online Resource
    Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
    Wiley ; 2013
    In:  Journal of Inherited Metabolic Disease Vol. 36, No. 1 ( 2013-01), p. 55-62
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 36, No. 1 ( 2013-01), p. 55-62
    Abstract: Defects of mitochondrial oxidative phosphorylation constitute a clinical and genetic heterogeneous group of disorders affecting multiple organ systems at varying age. Biochemical analysis of biopsy material demonstrates isolated or combined deficiency of mitochondrial respiratory chain enzyme complexes. Co‐occurrence of impaired activity of the pyruvate dehydrogenase complex has been rarely reported so far and is not yet fully understood. We investigated two siblings presenting with severe neonatal lactic acidosis, hypotonia, and intractable cardiomyopathy; both died within the first months of life. Muscle biopsy revealed a peculiar biochemical defect consisting of a combined deficiency of respiratory chain complexes I, II, and II+III accompanied by a defect of the pyruvate dehydrogenase complex. Joint exome analysis of both affected siblings uncovered a homozygous missense mutation in BOLA3 . The causal role of the mutation was validated by lentiviral‐mediated expression of the mitochondrial isoform of wildtype BOLA3 in patient fibroblasts, which lead to an increase of both residual enzyme activities and lipoic acid levels. Our results suggest that BOLA3 plays a crucial role in the biogenesis of iron‐sulfur clusters necessary for proper function of respiratory chain and 2‐oxoacid dehydrogenase complexes. We conclude that broad sequencing approaches combined with appropriate prioritization filters and experimental validation enable efficient molecular diagnosis and have the potential to discover new disease loci.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-012-9489-7
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2013
    detail.hit.zdb_id: 2006875-X
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