A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
(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
- Chamkha, Imen LU ; Alila-Fersi, Olfa ; Mkaouar-Rebai, Emna ; Aloulou, Hajer ; Kifagi, Chamseddine LU ; Hachicha, Mongia and Fakhfakh, Faiza
- publishing date
- 2012-12-07
- 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
-
- pmid:23131568
- 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
- 2024-10-05 01:29:06
@article{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>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.</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}}, 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}}, language = {{eng}}, month = {{12}}, number = {{1-2}}, pages = {{8--31}}, publisher = {{Elsevier}}, 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}}, doi = {{10.1016/j.bbrc.2012.10.105}}, volume = {{429}}, year = {{2012}}, }