Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion

Osanai, Ryuichi; Kinoshita, M.; Hirose, Kazuhiko

doi:10.1007/s004150170025

Cited by 5 publications

(4 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…(7) STR expansion to high repeat numbers may cause genetic disorders such as myotonic dystrophy, (8,9) Kennedy's disease (10) and fragile X syndrome. (11,12) Deleted dinucleotide STRs probably contribute to Sandhoff disease.…”

Section: Introductionmentioning

confidence: 99%

Short tandem repeats are associated with diverse mRNAs encoding membrane‐targeted proteins

Riley

Krieger

2004

BioEssays

View full text Add to dashboard Cite

Within the genomes of multicellular organisms, short tandem repeating sequences (STRs) are ubiquitous, yet usage patterns remain obscure. The repeats (AC)n and (GU)n appear frequently in the untranslated regions (UTRs) of messenger RNAs (mRNAs). To investigate STR usage patterns, we used three approaches: (1) comparisons of individual mRNA database sequences including annotations and linked references, (2) statistical analysis of complete, UTR databases and (3) study of a large gene family, the aquaporins. Among 500 (AC)n- or (GU)n-containing mRNAs, 58 (12%) had known functions. Of these, 50 (86%) encoded proteins whose activities involved membranes or lipids, including integral membrane proteins, peripheral membrane proteins, ion channels, lipid enzymes, receptors and secreted proteins. A control sequence (AU)n also occurred in mRNAs, but only 5% encoded membrane-related functions. Investigation of all reported 3' UTR sequences, demonstrated that the STR (AC)n was 9 times more common in mRNAs encoding membrane functions than in the total UTR database (P < 0.001). Similarly, (GU)n was 8 times more common in membrane-function mRNAs than in the total database (P < 0.001). These observations suggest that (AC)n and (GU)n may be UTR signals for some mRNAs encoding membrane-targeted proteins.

show abstract

Section: Introductionmentioning

confidence: 99%

Short tandem repeats are associated with diverse mRNAs encoding membrane‐targeted proteins

Riley

Krieger

2004

BioEssays

View full text Add to dashboard Cite

show abstract

“…Studies are exploring the applicability of MEM reflex testing in the monitoring of pathophysiological changes in the auditory pathways that are associated with blunt head trauma (Nolle, Todt, Seidl, & Ernst, 2004) and industrial noise exposure (Zivic & Zivic, 2003). The MEM reflex is also being studied as a possible addition to the clinical investigations of nonauditory diseases, such as juvenile idiopathic arthritis (Ikiz, Unsal, Kirkim, Erdag, & Guneri, 2007), hydranencephaly (Counter, 2007), amyotrophic lateral sclerosis (Shimizu, Hayashida, Hayashi, Kato, & Tanabe, 1996), myasthenia gravis (Smith & Brezinova, 1991), atypical parkinsonian syndrome (Gironell et al, 2003), and myotonic dystrophy (Osanai, Kinoshita, & Hirose, 2001). …”

Section: Discussionmentioning

confidence: 99%

Auditory Brainstem Circuits That Mediate the Middle Ear Muscle Reflex

Mukerji

Windsor

Lee

2010

Trends in Amplification

View full text Add to dashboard Cite

The middle ear muscle (MEM) reflex is one of two major descending systems to the auditory periphery. There are two middle ear muscles (MEMs): the stapedius and the tensor tympani. In man, the stapedius contracts in response to intense low frequency acoustic stimuli, exerting forces perpendicular to the stapes superstructure, increasing middle ear impedance and attenuating the intensity of sound energy reaching the inner ear (cochlea). The tensor tympani is believed to contract in response to self-generated noise (chewing, swallowing) and nonauditory stimuli. The MEM reflex pathways begin with sound presented to the ear. Transduction of sound occurs in the cochlea, resulting in an action potential that is transmitted along the auditory nerve to the cochlear nucleus in the brainstem (the first relay station for all ascending sound information originating in the ear). Unknown interneurons in the ventral cochlear nucleus project either directly or indirectly to MEM motoneurons located elsewhere in the brainstem. Motoneurons provide efferent innervation to the MEMs. Although the ascending and descending limbs of these reflex pathways have been well characterized, the identity of the reflex interneurons is not known, as are the source of modulatory inputs to these pathways. The aim of this article is to (a) provide an overview of MEM reflex anatomy and physiology, (b) present new data on MEM reflex anatomy and physiology from our laboratory and others, and (c) describe the clinical implications of our research.

show abstract

“…Ainda, em relação ao reflexo estapediano, o efeito da elevação de limiares desse reflexo em 20% das orelhas, nas freqüências de 0,5, 1 e 2 kHz, coincide com diferentes trabalhos (5)(6)(7)18) , no que tange à possibilidade de ocorrência de fenômeno miotônico no músculo estapediano, que acarretaria aumento do tempo de relaxamento muscular, proporcionando níveis de reflexo elevados.…”

Section: Discussionunclassified

“…Um estudo realizado com 13 portadores de DMS concluiu que os tempos de contração e de relaxamento do músculo estapédio apresentaram-se mais prolongados, supondo uma correlação direta com a fraqueza muscular e miotonia presentes nesses indivíduos (5) , o que corrobora com dados de outros autores que também afirmaram haver prolongamento do tempo de relaxamento do músculo estapediano em portadores de DMS (6)(7) .…”

Section: Introductionunclassified

Achados audiológicos em indivíduos com distrofia miotônica de Steinert

Lins

Padovani

Lucena

et al. 2008

Rev. soc. bras. fonoaudiol.

View full text Add to dashboard Cite

OBJETIVO: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert. MÉTODOS: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. RESULTADOS: O estudo demonstrou que 60% da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10% perda condutiva e 30% perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30% nas freqüências de 0,5 e 1 kHz e de 40% em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10% da amostra nas freqüências de 0,5 e 1 kHz. CONCLUSÃO: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30% da amostra.

show abstract

Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion

Cited by 5 publications

References 24 publications

Short tandem repeats are associated with diverse mRNAs encoding membrane‐targeted proteins

Short tandem repeats are associated with diverse mRNAs encoding membrane‐targeted proteins

Auditory Brainstem Circuits That Mediate the Middle Ear Muscle Reflex

Achados audiológicos em indivíduos com distrofia miotônica de Steinert

Contact Info

Product

Resources

About