A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

Imen Chamkha; Emna Mkaouar-Rebai; Hajer Aloulou; Imen Chabchoub; Chamseddine Kifagi; Nourhene Fendri-Kriaa; Thouraya Kammoun; Mongia Hachicha; Faiza Fakhfakh

doi:10.1016/j.bbrc.2010.12.012

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

Imen Chamkha, Emna Mkaouar-Rebai, Hajer Aloulou, Imen Chabchoub, Chamseddine Kifagi, Nourhene Fendri-Kriaa, Thouraya Kammoun, Mongia Hachicha, Faiza Fakhfakh

University of Sfax

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

Sammanfattning

Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.

Originalspråk	engelska
Sidor (från-till)	504-10
Antal sidor	7
Tidskrift	Biochemical and Biophysical Research Communications
Volym	404
Nummer	1
DOI	https://doi.org/10.1016/j.bbrc.2010.12.012
Status	Published - 2011 jan. 7
Externt publicerad	Ja

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10.1016/j.bbrc.2010.12.012

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Chamkha, I., Mkaouar-Rebai, E., Aloulou, H., Chabchoub, I., Kifagi, C., Fendri-Kriaa, N., Kammoun, T., Hachicha, M., & Fakhfakh, F. (2011). A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochemical and Biophysical Research Communications, 404(1), 504-10. https://doi.org/10.1016/j.bbrc.2010.12.012

@article{429bd2a10e83497ea9e7556a6c9568fc,

title = "A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss",

abstract = "Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.",

keywords = "Amino Acid Sequence, Cardiomyopathy, Hypertrophic, DNA Mutational Analysis, DNA, Mitochondrial, Female, Hearing Loss, Sensorineural, Humans, Infant, Mitochondria, Molecular Sequence Data, Mutation, Mutation, Missense, NADH Dehydrogenase, Polymorphism, Genetic, Protein Structure, Secondary, RNA, Transfer, Ile",

author = "Imen Chamkha and Emna Mkaouar-Rebai and Hajer Aloulou and Imen Chabchoub and Chamseddine Kifagi and Nourhene Fendri-Kriaa and Thouraya Kammoun and Mongia Hachicha and Faiza Fakhfakh",

year = "2011",

month = jan,

day = "7",

doi = "10.1016/j.bbrc.2010.12.012",

language = "English",

volume = "404",

pages = "504--10",

journal = "Biochemical and Biophysical Research Communications",

issn = "1090-2104",

publisher = "Elsevier",

number = "1",

}

Chamkha, I, Mkaouar-Rebai, E, Aloulou, H, Chabchoub, I, Kifagi, C, Fendri-Kriaa, N, Kammoun, T, Hachicha, M & Fakhfakh, F 2011, 'A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss', Biochemical and Biophysical Research Communications, vol. 404, nr. 1, s. 504-10. https://doi.org/10.1016/j.bbrc.2010.12.012

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. / Chamkha, Imen; Mkaouar-Rebai, Emna; Aloulou, Hajer et al.
I: Biochemical and Biophysical Research Communications, Vol. 404, Nr. 1, 07.01.2011, s. 504-10.

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

TY - JOUR

T1 - A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

AU - Chamkha, Imen

AU - Mkaouar-Rebai, Emna

AU - Aloulou, Hajer

AU - Chabchoub, Imen

AU - Kifagi, Chamseddine

AU - Fendri-Kriaa, Nourhene

AU - Kammoun, Thouraya

AU - Hachicha, Mongia

AU - Fakhfakh, Faiza

PY - 2011/1/7

Y1 - 2011/1/7

N2 - Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.

AB - Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.

KW - Amino Acid Sequence

KW - Cardiomyopathy, Hypertrophic

KW - DNA Mutational Analysis

KW - DNA, Mitochondrial

KW - Female

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Infant

KW - Mitochondria

KW - Molecular Sequence Data

KW - Mutation

KW - Mutation, Missense

KW - NADH Dehydrogenase

KW - Polymorphism, Genetic

KW - Protein Structure, Secondary

KW - RNA, Transfer, Ile

U2 - 10.1016/j.bbrc.2010.12.012

DO - 10.1016/j.bbrc.2010.12.012

M3 - Article

C2 - 21144833

SN - 1090-2104

VL - 404

SP - 504

EP - 510

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

IS - 1

ER -

Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N et al. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochemical and Biophysical Research Communications. 2011 jan. 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

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