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A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease

Chamkha, Imen LU ; Alila-Fersi, Olfa; Mkaouar-Rebai, Emna; Aloulou, Hajer; Kifagi, Chamseddine LU ; Hachicha, Mongia and Fakhfakh, Faiza (2012) In Biochemical and Biophysical Research Communications 429(1-2). p.8-31
Abstract

Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mutations in GAA gene. In the present study, we described a newborn boy with clinical features of Pompe disease particularly with hypertrophic cardiomyopathy, hypotonia and hepatomegaly. This case was at first misdiagnosed as mitochondrial disorder. Accordingly, we performed a mitochondrial mutational analysis that revealed a novel mutation... (More)

Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mutations in GAA gene. In the present study, we described a newborn boy with clinical features of Pompe disease particularly with hypertrophic cardiomyopathy, hypotonia and hepatomegaly. This case was at first misdiagnosed as mitochondrial disorder. Accordingly, we performed a mitochondrial mutational analysis that revealed a novel mutation m.12908T>A in the ND5 gene. Secondary structure analysis of the ND5 protein further supported the deleterious role of the m.12908T>A mutation, as it was found to involve an extended imbalance in its hydrophobicity and affect its function.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Age of Onset, Amino Acid Sequence, DNA Mutational Analysis, Electron Transport Complex I, Glycogen Storage Disease Type II, Humans, Infant, Male, Mitochondria, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Protein Structure, Secondary
in
Biochemical and Biophysical Research Communications
volume
429
issue
1-2
pages
8 pages
publisher
Elsevier
external identifiers
  • Scopus:84870390103
ISSN
1090-2104
DOI
10.1016/j.bbrc.2012.10.105
language
English
LU publication?
no
id
af4d8b27-7220-4534-9530-791b537e1db7
date added to LUP
2016-09-14 13:38:32
date last changed
2016-10-13 05:13:30
@misc{af4d8b27-7220-4534-9530-791b537e1db7,
  abstract     = {<p>Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mutations in GAA gene. In the present study, we described a newborn boy with clinical features of Pompe disease particularly with hypertrophic cardiomyopathy, hypotonia and hepatomegaly. This case was at first misdiagnosed as mitochondrial disorder. Accordingly, we performed a mitochondrial mutational analysis that revealed a novel mutation m.12908T&gt;A in the ND5 gene. Secondary structure analysis of the ND5 protein further supported the deleterious role of the m.12908T&gt;A mutation, as it was found to involve an extended imbalance in its hydrophobicity and affect its function.</p>},
  author       = {Chamkha, Imen and Alila-Fersi, Olfa and Mkaouar-Rebai, Emna and Aloulou, Hajer and Kifagi, Chamseddine and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1090-2104},
  keyword      = {Age of Onset,Amino Acid Sequence,DNA Mutational Analysis,Electron Transport Complex I,Glycogen Storage Disease Type II,Humans,Infant,Male,Mitochondria,Mitochondrial Proteins,Molecular Sequence Data,Mutation,Protein Structure, Secondary},
  language     = {eng},
  month        = {12},
  number       = {1-2},
  pages        = {8--31},
  publisher    = {ARRAY(0x65594a8)},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2012.10.105},
  volume       = {429},
  year         = {2012},
}