Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

Ikeuchi, Takeshi; Asaka, Tomoya; Saito, Masaaki; Tanaka, Hajime; Higuchi, Sari; Tanaka, Keiko; Saida, Kyôko; Uyama, Eiichiro; Mizusawa, H; Fukuhara, Nobuyoshi; Nonaka, Ikuya; Takamori, Masaharu; Tsuji, Shoji

doi:10.1002/ana.410410405

Cited by 75 publications

(34 citation statements)

References 23 publications

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“…In a previous study by Ikeuchi et al (1997), no linkage disequilibrium was found between the NM region and marker loci. If linkage disequilibrium between the disease locus and marker loci can be detected, a powerful approach by which to narrow the critical region toward which positional cloning efforts should be directed will be available.…”

Section: Introductionmentioning

confidence: 64%

“…Linkage has been shown between the disease locus and chromosome 9 in 2 of 11 families (families 6 and 7) (Ikeuchi et al 1997). The other 9 families who permitted analysis of DNA samples were not previously reported.…”

Section: Patients and Familiesmentioning

confidence: 93%

“…The results suggested that hIBM encompasses several syndromes (Askanas and Engel 1995). Ikeuchi et al (1997) also used linkage analysis to localize the NM gene to a 23.3-cM interval defined by polymorphic markers D9S319 and D9S276 on chromosome 9. Interestingly, the candidate region for the NM and hIBM genes overlapped in a 15-cM interval between markers D9S165 and D9S276, indicating that both disorders might result from allelic mutation of the same gene (Askanas 1997).…”

Section: Introductionmentioning

confidence: 99%

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Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

et al. 2001

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Autosomal recessive distal myopathy or Nonaka distal myopathy (NM) is characterized by its unique distribution of muscular weakness and wasting. The patients present with spared quadriceps muscles even in a late stage of the disease. The hamstring and tibialis anterior muscles are affected severely in early adulthood. We have localized the NM gene to the region between markers D9S319 and D9S276 on chromosome 9 by linkage analysis. To further refine the localization of the NM gene, we conducted homozygosity and linkage disequilibrium analysis for 14 patients from 11 NM families using 18 polymorphic markers. All of the patients from consanguineous NM families were found to be homozygous for six markers located within the region between markers D9S2178 and D9S1859. We also provided evidence for significant allelic associations between the NM region and five marker loci. Examination of the haplotype analysis identified a predominant ancestral haplotype comprising the associated alleles 199-160-154-109 (marker order: D9S2179-D9S2180-D9S2181-D9S1804), present in 60% of NM chromosomes and in 0% of parent chromosomes. On the basis of the data obtained in this study, the majority of NM chromosomes were derived from a single ancestral founder, and the NM gene is probably located within the 1.5-Mb region between markers D9S2178 and D9S1791.

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Section: Introductionmentioning

confidence: 64%

Section: Patients and Familiesmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

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Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

et al. 2001

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“…4 ± 7 Subsequently Christodoulou et al 8 have reported the same locus involved in quadriceps sparing HIBM in additional Jewish patients from Persian origin, and in other ethnic groups, and very recently Mirabella et al 9 have described an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy also linked to this locus. Ikeuchi et al 10 have also reported that a distal myopathy with rimmed vacuoles observed in Japanese patients maps to the same locus. This disorder is very similar to HIBM in Persian Jews: onset in early adulthood with drop foot; biopsies show rimmed vacuoles and inclusions of the same nature.…”

Section: Introductionmentioning

confidence: 84%

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

et al. 2001

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Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adultonset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in size. As a further step towards the identification of the HIBM gene, we have constructed a detailed physical and transcriptional map of this region. A high resolution BAC contig that includes the HIBM critical region, flanked by marker 327GT4 and D9S1859, was constructed. This contig allowed the precise localisation of 25 genes and ESTs to the proximal region of chromosome 9. The expression pattern of those mapped genes and ESTs was established by Northern blot analysis. In the process of refining the HIBM interval, 13 new polymorphic markers were identified, of which 11 are CA-repeats, and two are single nucleotide polymorphisms. Certainly, this map provides an important integration of physical and transcriptional information corresponding to chromosome 9p12-p13, which is expected to facilitate the cloning and identification not only of the HIBM gene, but also other disease genes which map to this region.

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“…Gene loci of both diseases have been mapped to chromosome 9 (5,6). HIBM is caused by mutations in the UDP-GlcNAc 2-epimerase/ManNAc kinase gene (GNE gene) (7).…”

mentioning

confidence: 99%

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles

Noguchi

Keira

Murayama³

et al. 2004

Journal of Biological Chemistry

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146

162

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Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood. In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid. In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system. Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60 -75% of control. The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue. The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

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Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

Cited by 75 publications

References 23 publications

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles

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