| Title |
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
|
|---|---|
| Published in |
Metabolic Brain Disease, January 2016
|
| DOI | 10.1007/s11011-016-9793-2 |
| Pubmed ID | |
| Authors |
Katharina Danhauser, Tobias B. Haack, Bader Alhaddad, Marlen Melcher, Annette Seibt, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier |
| Abstract |
Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis. Genetic defects affecting the function of these enzymes may cause pediatric mitochondrial disease. Here, we report on a child with fatal neonatal lactic acidosis and recurrent hypoglycemia caused by mutations in EARS2, encoding mitochondrial glutamyl-tRNA synthetase 2. Brain ultrasound revealed agenesis of corpus callosum. Studies on patient-derived skin fibroblasts showed severely decreased EARS2 protein levels, elevated reactive oxygen species (ROS) production, and altered mitochondrial morphology. Our report further illustrates the clinical spectrum of the severe neonatal-onset form of EARS2 mutations. Moreover, in this case the live-cell parameters appeared to be more sensitive to mitochondrial dysfunction compared to standard diagnostics, which indicates the potential relevance of fibroblast studies in children with mitochondrial diseases. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 3 | 15% |
| Student > Bachelor | 3 | 15% |
| Student > Ph. D. Student | 3 | 15% |
| Student > Master | 3 | 15% |
| Researcher | 2 | 10% |
| Other | 1 | 5% |
| Unknown | 5 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 30% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Neuroscience | 2 | 10% |
| Agricultural and Biological Sciences | 2 | 10% |
| Unknown | 8 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 January 2016.
All research outputs
#18,436,183
of 22,840,638 outputs
Outputs from Metabolic Brain Disease
#707
of 1,055 outputs
Outputs of similar age
#283,813
of 392,526 outputs
Outputs of similar age from Metabolic Brain Disease
#23
of 29 outputs
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