High Relative Frequency of SCA1 in Poland Reflecting a Potential Founder Effect

Overview

Journal Neurol Sci

Specialty Neurology

Date 2016 May 20

PMID 27193757

Citations 10

Authors

Wioletta Krysa

Anna Sulek

Maria Rakowicz

Walentyna Szirkowiec

Jacek Zaremba

Affiliations

Soon will be listed here.

Abstract

Spinocerebellar ataxias (SCAs) have irregular distributions worldwide. SCA1 is the most frequent in Poland, and no cases of SCA3 of Polish origin has yet been identified. In view of such patterns of SCAs occurrence, the relative frequency, geographical distribution and a possible founder effect of SCA1 were investigated. DNA samples of 134 probands with SCA1 and 228 controls were analysed. The genotyping of four markers, D6S89, D6S109, D6S274, D6S288, around the ATXN1 gene (SCA1) and sequencing of the selected variant of D6S89 were performed. The relative frequency of SCA1 was 68 %. The studied SCA1 pedigrees were irregularly distributed, with the highest concentration in Central Poland. Haplotyping revealed the association of ATXN1 gene mutation with a 197-bp variant of D6S89 marker (63 % of probands) and with a 184-bp variant of DS6274 (50.7 % of probands). Out of 61 SCA1 probands from Mazowieckie, 41 carried the same 197-bp variant. SCA1 relative frequency in Poland shows the highest value compared with the data from other countries worldwide. Due to the association with the mutation obtained for the investigated markers and the SCA1 pedigrees concentration in Central Poland, we hypothesise that it represents a potential founder effect.

Citing Articles

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus G, Suspitsin E, Imyanitov E Int J Mol Sci. 2024; 25(17).

PMID: 39273284 PMC: 11394759. DOI: 10.3390/ijms25179335.

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.

Soloveva E, Skleimova M, Minaycheva L, Garaeva A, Zhigalina D, Churkin E J Assist Reprod Genet. 2024; 41(5):1273-1283.

PMID: 38578603 PMC: 11143087. DOI: 10.1007/s10815-024-03105-w.

Epidemiology of Spinocerebellar Ataxias in Europe.

De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chio A Cerebellum. 2023; 23(3):1176-1183.

PMID: 37698771 PMC: 11102384. DOI: 10.1007/s12311-023-01600-x.

K 2.2 (KCNN2): A physiologically and therapeutically important potassium channel.

Rahman M, Orfali R, Dave N, Lam E, Naguib N, Nam Y J Neurosci Res. 2023; 101(11):1699-1710.

PMID: 37466411 PMC: 10932612. DOI: 10.1002/jnr.25233.

The emerging roles of long non-coding RNAs in polyglutamine diseases.

Dong X, Cong S J Cell Mol Med. 2021; 25(17):8095-8102.

PMID: 34318578 PMC: 8419158. DOI: 10.1111/jcmm.16808.

References

Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I . Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur Neurol. 2000; 44(1):31-6. DOI: 10.1159/000008189. View

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C . Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004; 61(5):727-33. DOI: 10.1001/archneur.61.5.727. View

Banfi S, Chung M, Kwiatkowski Jr T, Ranum L, McCall A, Chinault A . Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics. 1993; 18(3):627-35. DOI: 10.1016/s0888-7543(05)80365-9. View

Klockgether T . The clinical diagnosis of autosomal dominant spinocerebellar ataxias. Cerebellum. 2008; 7(2):101-5. DOI: 10.1007/s12311-008-0023-2. View

Keats B, Pollack M, McCall A, Wilensky M, Ward L, Lu M . Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet. 1991; 49(5):972-7. PMC: 1683235. View

Matsuura T, Ranum L, Volpini V, Pandolfo M, Sasaki H, Tashiro K . Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 2002; 58(6):983-4. DOI: 10.1212/wnl.58.6.983. View

Illarioshkin S, Slominsky P, Ovchinnikov I, Markova E, Miklina N, Klyushnikov S . Spinocerebellar ataxia type 1 in Russia. J Neurol. 1996; 243(7):506-10. DOI: 10.1007/BF00886871. View

Litt M, Luty J . Dinucleotide repeat polymorphism at the D6S89 locus. Nucleic Acids Res. 1990; 18(14):4301. PMC: 331240. DOI: 10.1093/nar/18.14.4301. View

Ranum L, Chung M, Duvick L, Zoghbi H, Orr H . Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res. 1991; 19(5):1171. PMC: 333832. DOI: 10.1093/nar/19.5.1171-a. View

10.

Lunkes A, Goldfarb L, Platonov F, Alexeev V, Gajdusek D, Auburger G . Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus. Exp Neurol. 1994; 126(2):310-2. DOI: 10.1006/exnr.1994.1070. View

11.

Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G . Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology. 1990; 40(9):1369-75. DOI: 10.1212/wnl.40.9.1369. View

12.

Moseley M, Benzow K, Schut L, Bird T, Gomez C, Barkhaus P . Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology. 1998; 51(6):1666-71. DOI: 10.1212/wnl.51.6.1666. View

13.

Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P . A second-generation linkage map of the human genome. Nature. 1992; 359(6398):794-801. DOI: 10.1038/359794a0. View

14.

Ranum L, Rich S, Nance M, Duvick L, Aita J, Orr H . Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology. 1992; 42(2):344-7. DOI: 10.1212/wnl.42.2.344. View

15.

Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M . Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet. 1998; 7(2):171-6. DOI: 10.1093/hmg/7.2.171. View

16.

Zortea M, Armani M, Pastorello E, Nunez G, Lombardi S, Tonello S . Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepidemiology. 2004; 23(6):275-80. DOI: 10.1159/000080092. View

17.

Takiyama Y, Igarashi S, Rogaeva E, Endo K, Rogaev E, Tanaka H . Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995; 4(7):1137-46. DOI: 10.1093/hmg/4.7.1137. View

18.

Bauer P, Zumrova A, Matoska V, Marikova T, Krilova S, Boday A . Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population. Eur J Neurol. 2005; 12(11):851-7. DOI: 10.1111/j.1468-1331.2005.01090.x. View

19.

Goldfarb L, CHUMAKOV M, Petrov P, Fedorova N, Gajdusek D . Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. Neurology. 1989; 39(11):1527-30. DOI: 10.1212/wnl.39.11.1527. View

20.

Jodice C, Frontali M, Persichetti F, Novelletto A, Pandolfo M, Spadaro M . The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Hum Mol Genet. 1993; 2(9):1383-7. DOI: 10.1093/hmg/2.9.1383. View