| Title |
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry
|
|---|---|
| Published in |
BMC Medical Genomics, May 2016
|
| DOI | 10.1186/s12881-016-0303-5 |
| Pubmed ID | |
| Authors |
Rogério Marins Alves, Sueli Matilde da Silva Costa, Paulo Mauricio do Amôr Divino Miranda, Priscila Zonzini Ramos, Thiago Gibbin Marconi, Gisele Santos Oliveira, Arthur Menino Castilho, Edi Lúcia Sartorato |
| Abstract |
Mutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutations in mitochondrial genes to the etiology of hearing loss in a Brazilian sample. Using mass spectrometry genotyping technology, combined with direct sequencing, 50 alterations previously described in 14 mitochondrial genes were screened in 152 patients with sensorineural hearing loss and in104 normal hearing controls. Fifteen known mitochondrial alterations were detected (G709A, A735G, A827G, G988A, A1555G, T4363C, T5628C, T5655C, G5821A, C7462T, G8363A, T10454C, G12236A, T1291C, G15927A). Pathogenic mutations in MT-RNR1 and MT-TK genes were detected in 3 % (5/152) of the patients with hearing loss. This study contributed to show the spectrum of mitochondrial variants in Brazilian patients with hearing loss. Frequency of A1555G was relatively high (2.6 %), indicating that this mutation is an important cause of hearing loss in our population. This work reports for the first time the investigation and the detection of the tRNA(Lys) G8363A mutation in Brazilian patients with maternally inherited sensorineural hearing loss. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 33% |
| Australia | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 4 | 18% |
| Student > Bachelor | 4 | 18% |
| Student > Master | 3 | 14% |
| Researcher | 2 | 9% |
| Student > Postgraduate | 2 | 9% |
| Other | 3 | 14% |
| Unknown | 4 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 27% |
| Unspecified | 4 | 18% |
| Medicine and Dentistry | 3 | 14% |
| Agricultural and Biological Sciences | 2 | 9% |
| Mathematics | 1 | 5% |
| Other | 2 | 9% |
| Unknown | 4 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 16 May 2017.
All research outputs
#16,721,208
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,194
of 2,444 outputs
Outputs of similar age
#213,935
of 351,834 outputs
Outputs of similar age from BMC Medical Genomics
#9
of 21 outputs
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