Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

Diogo, Luísa; Grazina, Manuela; Garcia, Paula; Rebelo, Olinda; Veiga, Margarida Alte; Cuevas, Juan Lagarda; Vilarinho, Laura; Almeida, Isabel Tavares de; Oliveira, Catarina R.

doi:10.1016/j.pediatrneurol.2008.11.012

Cited by 19 publications

(14 citation statements)

References 23 publications

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“…These diseases are frequently associated with neurocognitive deficits, including ADHD, autism spectrum disorders, behavioral abnormalities, and psychosocial issues [4, 14]. We highlight the importance of early (prescholar) and complete evaluation in these patients, to prepare the child, family, and technical education in the prevention of learning difficulties, promoting self-esteem, and social integration [2].…”

Section: Discussionmentioning

confidence: 99%

“…In the present patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis. It is well known that mitochondrial respiratory chain enzymatic defects are not specific, because they are also found in other disorders [14]. Therefore it is difficult to ascertain in this case if the enzymatic defect results from a primary or secondary cause [14].…”

Section: Discussionmentioning

confidence: 99%

“…Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system [10]. The diagnosis of mitochondrial disease is complex because of its clinical and genetic heterogeneity [7, 12, 14]. We present a case report on a child with NF1 and deficiency of the mitochondrial complex I, an association not described before.…”

Section: Introductionmentioning

confidence: 99%

“…The organs with highest energy demand, such as, heart, brain, skeletal muscle tissue, and liver, are preferentially involved [6, 8–11]. Treatment is supportive [7, 12] and does not influence the natural course of the disease [8, 13], and the prognosis is often poor [11, 14]. Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system [10].…”

Section: Introductionmentioning

confidence: 99%

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Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Domingues

Isidoro

Rocha

et al. 2014

Case Reports in Genetics

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Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Domingues

Isidoro

Rocha

et al. 2014

Case Reports in Genetics

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“…The Portuguese data from "Centro" region was obtained between 1997-2006 in a population of a tertiary pediatric hospital, revealing an incidence of 1.5:10.000 and a prevalence of 5.4:100.000 in children under 10 years (Diogo et al, 2009). The MRCD may be associated to any mode of inheritance: sporadic, autosomal recessive, dominant, X-linked or maternal inheritance.…”

Section: Introductionmentioning

confidence: 99%

Antenatal manifestations of mitochondrial disorders

Tavares

Santos

Domingues

et al. 2013

J of Inher Metab Disea

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Mitochondrial respiratory chain diseases are a heterogeneous group of pathologies caused by genetic alterations affecting mitochondrial energy production. Theoretically, this deficiency may lead to any symptoms, in any organ or tissue, at any age even before birth. The aim of our study was to identify the frequency and characterize antenatal manifestations identifying possible associations between mitochondrial disease and more specific and earlier manifestation. We retrospectively review the files of 44 paediatric subjects with genetic and biochemical alterations of respiratory chain identified in the first decade of life and compare data with a control group (n = 88). Our results show that maternal age was similar in both groups. The female gender was predominant in patients group. Gestational age at delivery was similar in both groups. Concerning birth weight, it was significantly lower (p = 0.001) in patients (2899.9 ± 538.3 vs. 3246.6 ± 460.2 g). Fifteen pregnancies of the patients group were considered abnormal. Our findings show that intrauterine growth restriction was the most frequent antenatal feature observed. Neonatal morbidity was significantly higher (fivefold) in patients (p < 0.001). The clinical findings are independent of the molecular defect type. Our results are preliminary and more studies are needed, in order to learn more about mitochondrial physiology and activity in embryological development for the assessment of mitochondrial disease progress in fetal life. However, the present work is a significant contribution, given the scarcity of information in this field.

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Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects

Craigen

2011

Methods in Molecular Biology

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Mutations that arise in mitochondrial DNA (mtDNA) may be sporadic, maternally inherited, or Mendelian in character and include mtDNA rearrangements such as deletions, inversions or duplications, point mutations, or copy number depletion. Primary mtDNA mutations occur sporadically or exhibit maternal inheritance and arise due in large part to the high mutation rate of mtDNA. mtDNA mutations may also occur because of defects in the biogenesis or maintenance of mtDNA, reflecting the contribution of nuclear-encoded genes to these processes, and in this case exhibit Mendelian inheritance. Whether maternally inherited, sporadic, or Mendelian, mtDNA mutations can exhibit a complex and broad spectrum of disease manifestations due to the central role mitochondria play in a variety of cellular functions. In addition, because there exist hundreds to thousands of copies of mtDNA in each cell, the proportion of mutant mtDNA molecules can have a profound effect on the cellular and clinical phenotype. This chapter reviews the classification of mtDNA mutations and the clinical features that determine the diagnosis of a primary mtDNA disorder.

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Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

Cited by 19 publications

References 23 publications

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Antenatal manifestations of mitochondrial disorders

Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects

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