MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Abstract Text:

Ester Ballana,Josep Maria Mercader,Nathan Fischel-Ghodsian,Xavier Estivill,Ester Ballana,Josep Maria Mercader,Nathan Fischel-Ghodsian,Xavier Estivill,

BACKGROUND: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Biochemical and genetic data have suggested that nuclear background is the main factor involved in modulating the phenotypic expression of mutation A1555G. However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified. METHODS: With the aim to gain insights into the factors that determine the phenotypic expression of A1555G mutation, we have analysed in detail different genetic and genomic elements on 8p23.1 region (DEFA3 gene absence, CLDN23 gene and MRPS18CP2 pseudogene) in a group of 213 A1555G carriers. RESULTS: Family based association studies identified a positive association for a polymorphism on MRPS18CP2 and an overrepresentation of DEFA3 gene absence in the deaf group of A1555G carriers. CONCLUSION: Although none of the factors analysed seem to have a major contribution to the phenotype, our findings provide further evidences of the involvement of 8p23.1 region as a modifying locus for A1555G 12S rRNA gene mutation.

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Publishing Authors By Initials

E Ballana,JM Mercader,N Fischel-Ghodsian,X Estivill,E Ballana,JM Mercader,N Fischel-Ghodsian,X Estivill,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: BMC medical genetics

VOLUME: 8

Page Numbers: 81

Journal Abbreviation: BMC Med. Genet.

ISSN: 1471-2350

DAY: 21

MONTH: 12

YEAR: 2007

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 100968552

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

AFFILIATION: Genes and Disease Program, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. ester.ballana@gmail.com

Country: England

AGENCY: United States NIDCD

GRANT: R01DC01402

ACRONYM: DC

MEDLINETA: BMC Med Genet

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p231 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene Related Publications

• A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders.
• A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.
• Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.
• Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.
• Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.
• Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders.
• Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients.
• Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
• Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa.
• Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
• Extensive Genotyping of the BDNF and NTRK2 Genes Define Protective Haplotypes Against Obsessive-Compulsive Disorder.
• Functional genomics of Down syndrome: a multidisciplinary approach.
• Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene.
• Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
• Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).
• Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
• Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin.
• [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder.]