Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?

Savić, Djordje; Topisirović, Ivan; Keckarević, Milica; Keckarević, Dušan; Major, Tamara; Čuljković, Biljana; Stojković, Oliver; Rakočević-Stojanović, Vidosava; Mladenović, Jelena; Todorović, S.; Apostolski, Slobodan; Romac, Stanka

doi:10.1097/00041444-200112000-00004

Cited by 5 publications

(10 citation statements)

References 10 publications

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“…Among 45 HD and 52 DM1 patients the previous studies detected a frequency of 20% and 40%, respectively (Keckarevic et al, 2000;Savic et al, 2001). In this study we were unable to corroborate these findings for the German population.…”

Section: Resultscontrasting

confidence: 93%

“…The frequency of the 31 allele in our study is within the range found in other Caucasian populations (7.8-15.7%) (Ranum et al, 1994;Watkins et al, 1995;Limprasert et al, 1997;Popova et al, 2001) and is also comparable with the frequency of 11.3% in the Yugoslavian control group (Savic et al, 2001). Comparing different ethnic populations, the 31 allele frequency spans an even broader range (4-20%) (Watkins et al, 1995;Limprasert et al, 1997).…”

Section: Resultssupporting

confidence: 87%

“…On the other hand, a trans-acting factor for repeat expansions may be in linkage disequilibrium with the 31 SCA1 allele (Savic et al, 2001). This hypothesis is difficult to prove in a simple case-control study that does not investigate repeat instability.…”

Section: Resultsmentioning

confidence: 99%

“…Statistical analyses were carried out with Tools For Population Genetic Analyses software (MP Miller, 1997, a Windows program for the analysis of allozyme and molecular population data), which was also used in the previous study (Savic et al, 2001). The distribution of allele frequencies was compared between different groups using the exact test for population differentiation, which employs a Markov Chain Monte Carlo approach.…”

Section: Methodsmentioning

confidence: 99%

“…The allele with 31 trinucleotide repeats was detected 3.69 times more frequently in HD patients than in the control group. In a subsequent study, six trinucleotide repeatcontaining loci have been investigated in myotonic dystrophy type 1 (DM1) patients (Savic et al, 2001). Again, a significant association between the DM1 disease and the SCA1 allele with 31 repeats was found, suggesting that the SCA1 locus may have an important role in trinucleotide instability.…”

Section: Introductionmentioning

confidence: 99%

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No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

Hellenbroich

Opitz²,

Schwinger³

et al. 2004

Psychiatric Genetics

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Trinucleotide repeat expansions are the underlying mutation in several neurodegenerative and neuromuscular disorders including at least eight spinocerebellar ataxias (SCA). The molecular mechanisms of repeat expansion are as yet insufficiently understood. Recently, an association of the SCA1 (CAG)31 repeat allele with Huntington's disease and myotonic dystrophy type 1 was described. These findings implicate a possible role of the SCA1 (CAG)31 allele in other triplet diseases. We analyzed the SCA1 CAG repeat length in a large sample of Huntington's disease (n=182), myotonic dystrophy type 1 (n=64) and SCA3 (n=31) patients. In none of these groups was a significant association with the 31 repeat allele found. Our findings do not support the hypothesis that this allele is involved in the etiology of trinucleotide expansion.

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Section: Resultscontrasting

confidence: 93%

Section: Resultssupporting

confidence: 87%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

Hellenbroich

Opitz²,

Schwinger³

et al. 2004

Psychiatric Genetics

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Patterns of CAG repeat interruptions inSCA1 andSCA2 genes in relation to repeat instability

Sobczak

Krzyżosiak

2004

Hum. Mutat.

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About 3% of the human genome is composed of simple sequence repeats and many of these sequences occur within genes. These repeats are often polymorphic in a normal population and their expansion in specific genes leads to a number of hereditary neurological diseases. Normal variants of disease-related genes contain either pure or interrupted repeats, and the postulated function of the interruptions is to prevent repeat expansions. Their structural role in the repeat tracts of genes and transcripts awaits detailed characterization. In this study, we have determined the SCA1 and SCA2 genotypes in a Polish population and found significant differences in allele spectra and frequencies from those reported for other populations. They are discussed in relation to the repeat expansion mechanism and disease incidence. We postulate that the dynamic mutation of the genes SCA1 (also ATX1 or ataxin 1) and SCA2 (also ATX2 or ataxin 2) may begin from the expansion of long pure repeat tracts without the prior loss of interruptions. A simple way of cost-effective allelotyping of CAG repeat regions in the SCA1 and SCA2genes is also shown. The reliable SSCP/duplex analysis presented here may be the method of choice for the systematic searching of genes for known and novel interrupted repeats.

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Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1

et al. 2004

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A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dystrophy type 1 (DM1). All of his three children (a son and two daughters) had the DM1 phenotype with long (CTG)n expansions. The daughters also had heterozygous long (CAG)n expansions. Postmortem examination of the patient revealed the characteristic pathological changes of SBMA as well as muscle degeneration compatible with DM1. Gene analysis of the organs disclosed unstable long expansions of the (CTG)n repeats, in contrast to the stable (CAG)n expansions. We have assumed that SBMA and DM1 developed independently in our patient, but cannot exclude the possibility that interactive gene effects increased somatic instability.

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Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?

Cited by 5 publications

References 10 publications

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

Patterns of CAG repeat interruptions inSCA1 andSCA2 genes in relation to repeat instability

Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1

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