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Köhn, Linda
Publikationer (10 of 16) Visa alla publikationer
Thysell, E., Köhn, L., Semenas, J., Järemo, H., Freyhult, E., Lundholm, M., . . . Wikström, P. (2022). Clinical and biological relevance of the transcriptomic-based prostate cancer metastasis subtypes MetA-C. Molecular Oncology (4)
Öppna denna publikation i ny flik eller fönster >>Clinical and biological relevance of the transcriptomic-based prostate cancer metastasis subtypes MetA-C
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2022 (Engelska)Ingår i: Molecular Oncology, ISSN 1574-7891, E-ISSN 1878-0261, nr 4Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

To improve treatment of metastatic prostate cancer, the biology of metastases needs to be understood. We recently described three subtypes of prostate cancer bone metastases (MetA-C), based on differential gene expression. The aim of this study was to verify the clinical relevance of these subtypes, and to explore their biology and relations to genetic drivers. Freshly-frozen metastasis samples were obtained as hormone-naive (n=17), short-term castrated (n=21) or castration resistant (n=65) from a total of 67 patients. Previously published sequencing data from 573 metastasis samples was also analyzed. Through transcriptome profiling and sample classification based on a set of predefined MetA-C-differentiating genes, we found that most metastases were heterogeneous for the MetA-C subtypes. Overall, MetA was the most common subtype, while MetB was significantly enriched in castration-resistant samples and in liver metastases, and consistently associated with poor prognosis. By gene set enrichment analysis, the phenotype of MetA was described by high androgen response, protein secretion and adipogenesis, MetB by high cell cycle activity and DNA repair, and MetC by epithelial-to-mesenchymal transition and inflammation. The MetB subtype demonstrated single-nucleotide variants of RB transcriptional corepressor 1 (RB1) and loss of 21 genes at chromosome 13, including RB1, but provided independent prognostic value to those genetic aberrations. In conclusion, a distinct set of gene transcripts can be used to classify prostate cancer metastases into the subtypes MetA-C. The MetA-C subtypes show diverse biology, organ tropism and prognosis. The MetA-C classification may be used independently, or in combination with genetic markers, primarily to identify MetB patients in need of complementary therapy to conventional androgen-receptor-targeting treatments.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2022
Nyckelord
MetA-C, Metastasis, Prognosis, Prostate cancer, Subtypes, Transcriptomic
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
urn:nbn:se:umu:diva-190463 (URN)10.1002/1878-0261.13158 (DOI)000734478400001 ()34889043 (PubMedID)2-s2.0-85121666619 (Scopus ID)
Tillgänglig från: 2021-12-16 Skapad: 2021-12-16 Senast uppdaterad: 2023-10-23Bibliografiskt granskad
Tjon-Kon-Fat, L.-A., Köhn, L., Best, M., Lundholm, M., Wurdinger, T., Widmark, A., . . . Nilsson, J. (2020). Tumor-educated platelets for early prostate cancer diagnosis, and therapy stratification in patients with metastasized castration resistant prostate cancer. Paper presented at AACR Special Conference on Advances in Liquid Biopsies, JAN 13-16, 2020, Miami, FL. Clinical Cancer Research, 26(11), 73-74
Öppna denna publikation i ny flik eller fönster >>Tumor-educated platelets for early prostate cancer diagnosis, and therapy stratification in patients with metastasized castration resistant prostate cancer
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2020 (Engelska)Ingår i: Clinical Cancer Research, ISSN 1078-0432, E-ISSN 1557-3265, Vol. 26, nr 11, s. 73-74Artikel i tidskrift, Meeting abstract (Övrigt vetenskapligt) Published
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American Association for Cancer Research, 2020
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
urn:nbn:se:umu:diva-172502 (URN)000537848000100 ()
Konferens
AACR Special Conference on Advances in Liquid Biopsies, JAN 13-16, 2020, Miami, FL
Tillgänglig från: 2020-07-03 Skapad: 2020-07-03 Senast uppdaterad: 2020-07-03Bibliografiskt granskad
Haider, Z., Larsson, P., Landfors, M., Köhn, L., Schmiegelow, K., Flaegstad, T., . . . Degerman, S. (2019). An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression. Cancer Medicine, 8(1), 311-324
Öppna denna publikation i ny flik eller fönster >>An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression
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2019 (Engelska)Ingår i: Cancer Medicine, E-ISSN 2045-7634, Vol. 8, nr 1, s. 311-324Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Classification of pediatric T‐cell acute lymphoblastic leukemia (T‐ALL) patients into CIMP (CpG Island Methylator Phenotype) subgroups has the potential to improve current risk stratification. To investigate the biology behind these CIMP subgroups, diagnostic samples from Nordic pediatric T‐ALL patients were characterized by genome‐wide methylation arrays, followed by targeted exome sequencing, telomere length measurement, and RNA sequencing. The CIMP subgroups did not correlate significantly with variations in epigenetic regulators. However, the CIMP+ subgroup, associated with better prognosis, showed indicators of longer replicative history, including shorter telomere length (P = 0.015) and older epigenetic (P < 0.001) and mitotic age (P < 0.001). Moreover, the CIMP+ subgroup had significantly higher expression of ANTP homeobox oncogenes, namely TLX3, HOXA9, HOXA10, and NKX2‐1, and novel genes in T‐ALL biology including PLCB4, PLXND1, and MYO18B. The CIMP− subgroup, with worse prognosis, was associated with higher expression of TAL1 along with frequent STIL‐TAL1 fusions (2/40 in CIMP+ vs 11/24 in CIMP−), as well as stronger expression of BEX1. Altogether, our findings suggest different routes for leukemogenic transformation in the T‐ALL CIMP subgroups, indicated by different replicative histories and distinct methylomic and transcriptomic profiles. These novel findings can lead to new therapeutic strategies.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2019
Nyckelord
BEX1, DNA methylation, HOXA, pediatric acute lymphoblastic leukemia, TAL1
Nationell ämneskategori
Cancer och onkologi Hematologi Pediatrik Biokemi och molekylärbiologi
Identifikatorer
urn:nbn:se:umu:diva-156637 (URN)10.1002/cam4.1917 (DOI)000456858100032 ()30575306 (PubMedID)2-s2.0-85060542802 (Scopus ID)
Forskningsfinansiär
KempestiftelsernaBarncancerfondenVästerbottens läns landstingVetenskapsrådetKnut och Alice Wallenbergs Stiftelse
Tillgänglig från: 2019-02-20 Skapad: 2019-02-20 Senast uppdaterad: 2024-01-17Bibliografiskt granskad
Andersson Evelönn, E., Landfors, M., Haider, Z., Köhn, L., Ljungberg, B., Roos, G. & Degerman, S. (2019). DNA methylation associates with survival in non-metastatic clear cell renal cell carcinoma. BMC Cancer, 19, Article ID 65.
Öppna denna publikation i ny flik eller fönster >>DNA methylation associates with survival in non-metastatic clear cell renal cell carcinoma
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2019 (Engelska)Ingår i: BMC Cancer, ISSN 1471-2407, E-ISSN 1471-2407, Vol. 19, artikel-id 65Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Background: Clear cell renal cell carcinoma (ccRCC) is the most common subtype among renal cancer and is associated with poor prognosis if metastasized. Up to one third of patients with local disease at diagnosis will develop metastasis after nephrectomy, and there is a need for new molecular markers to identify patients with high risk of tumor progression. In the present study, we performed genome-wide promoter DNA methylation analysis at diagnosis to identify DNA methylation profiles associated with risk for progress.

Method: Diagnostic tissue samples from 115 ccRCC patients were analysed by Illumina HumanMethylation450K arrays and methylation status of 155,931 promoter associated CpGs were related to genetic aberrations, gene expression and clinicopathological parameters.

Results: The ccRCC samples separated into two clusters (cluster A/B) based on genome-wide promoter methylation status. The samples in these clusters differed in tumor diameter (p < 0.001), TNM stage (p < 0.001), morphological grade (p < 0.001), and patients outcome (5 year cancer specific survival (pCSS5yr) p < 0.001 and cumulative incidence of progress (pCIP5yr) p < 0.001. An integrated genomic and epigenomic analysis in the ccRCCs, revealed significant correlations between the total number of genetic aberrations and total number of hypermethylated CpGs (R = 0.435, p < 0.001), and predicted mitotic age (R = 0.407, p < 0.001). We identified a promoter methylation classifier (PMC) panel consisting of 172 differently methylated CpGs accompanying progress of disease. Classifying non-metastatic patients using the PMC panel showed that PMC high tumors had a worse prognosis compared with the PMC low tumors (pCIP5yr 38% vs. 8%, p = 0.001), which was confirmed in non-metastatic ccRCCs in the publically available TCGA-KIRC dataset (pCIP5yr 39% vs. 16%, p < 0.001).

Conclusion: DNA methylation analysis at diagnosis in ccRCC has the potential to improve outcome-prediction in non-metastatic patients at diagnosis.

Ort, förlag, år, upplaga, sidor
BioMed Central, 2019
Nyckelord
Clear cell renal cell carcinoma, DNA methylation, Prognosis, Genetic
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
urn:nbn:se:umu:diva-155957 (URN)10.1186/s12885-019-5291-3 (DOI)000455576500013 ()30642274 (PubMedID)2-s2.0-85059954267 (Scopus ID)
Forskningsfinansiär
KempestiftelsernaCancerfondenVästerbottens läns landsting
Tillgänglig från: 2019-02-08 Skapad: 2019-02-08 Senast uppdaterad: 2023-03-23Bibliografiskt granskad
Köhn, L., Johansson, M., Grankvist, K. & Nilsson, J. (2017). Liquid biopsies in lung cancer: time to implement research technologies in routine care?. Annals of Translational Medicine, 5(13), Article ID 278.
Öppna denna publikation i ny flik eller fönster >>Liquid biopsies in lung cancer: time to implement research technologies in routine care?
2017 (Engelska)Ingår i: Annals of Translational Medicine, ISSN 2305-5839, E-ISSN 2305-5847, Vol. 5, nr 13, artikel-id 278Artikel, forskningsöversikt (Refereegranskat) Published
Abstract [en]

Lung cancer is the leading cause of cancer mortality. A substantial progress in the understanding of lung cancer biology has resulted in several promising targeted therapies for advanced disease. Druggable targets today include point mutations such as EGFR, BRAF and re-arrangements in genes such as ALK and ROS1. Liquid biopsies collecting e.g., circulating tumor DNA (ctDNA) reflects overall tumor information and is not biased by analyzing of only a small fraction of the tumor and is always accessible in contrast to the lung cancer tissue. Technological advances in detection of low frequency mutation variants in ctDNA have made it the dominating liquid biopsy platform in terms of utility and sensitivity. Circulating DNA or RNA may possible be used to define populations with higher risk of developing lung cancer, thus reducing screening cohorts and increasing the positive predictive value of screening. Blood based-tests may also aid to identify genetic alterations several weeks prior to radiologically verified recurrence and may be of great value in the follow-up of lung cancer patients. Besides being an alternative to invasive biopsies in selected cases, liquid biopsies offer a unique possibility to monitor treatment response following medical treatment as well as treatment response and resistance development after targeted therapy, giving a possibility to modify the treatment after the genetic profile of the tumor. Ideally, genetic alterations found in ctDNA could be tracked in real-time discriminating between fast-growing life-threatening tumors from more indolent slow growing tumors or premalignant growth that are of no concern for the wellbeing of the patient. This review focuses on future perspectives of liquid biopsies in lung cancer care for different clinical settings and present current technological platforms for further discussion of possible strategies for implementation of liquid biopsies in lung cancer.

Ort, förlag, år, upplaga, sidor
AME Publishing Company, 2017
Nyckelord
cell-free DNA, liquid biopsy, lung cancer, next-generation sequencing, personalized medicine
Nationell ämneskategori
Cancer och onkologi Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
Identifikatorer
urn:nbn:se:umu:diva-139154 (URN)10.21037/atm.2017.04.12 (DOI)000408647900011 ()28758104 (PubMedID)2-s2.0-85024840457 (Scopus ID)
Tillgänglig från: 2017-09-11 Skapad: 2017-09-11 Senast uppdaterad: 2023-03-24Bibliografiskt granskad
Andersson Evelönn, E., Degerman, S., Köhn, L., Landfors, M., Ljungberg, B. & Roos, G. (2016). DNA methylation status defines clinicopathological parameters including survival for patients with clear cell renal cell carcinoma (ccRCC). Tumor Biology, 37(8), 10219-10228
Öppna denna publikation i ny flik eller fönster >>DNA methylation status defines clinicopathological parameters including survival for patients with clear cell renal cell carcinoma (ccRCC)
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2016 (Engelska)Ingår i: Tumor Biology, ISSN 1010-4283, E-ISSN 1423-0380, Vol. 37, nr 8, s. 10219-10228Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Epigenetic alterations in the methylome have been associated with tumor development and progression in renal cell carcinoma (RCC). In this study, 45 tumor samples, 12 tumor-free kidney cortex tissues, and 24 peripheral blood samples from patients with clear cell RCC (ccRCC) were analyzed by genome-wide promoter-directed methylation arrays and related to clinicopathological parameters. Unsupervised hierarchical clustering separated the tumors into two distinct methylation groups (clusters A and B), where cluster B had higher average methylation and increased number of hypermethylated CpG sites (CpGs). Furthermore, tumors in cluster B had, compared with cluster A, a larger tumor diameter (p = 0.033), a higher morphologic grade (p < 0.001), a higher tumor-node-metastasis (TNM) stage (p < 0.001), and a worse prognosis (p = 0.005). Higher TNM stage was correlated to an increase in average methylation level (p = 0.003) and number of hypermethylated CpGs (p = 0.003), whereas a number of hypomethylated CpGs were mainly unchanged. However, the predicted age of the tumors based on methylation profile did not correlate with TNM stage, morphological grade, or methylation cluster. Differently methylated (DM) genes (n = 840) in ccRCC samples compared with tumor-free kidney cortex samples were predominantly hypermethylated and a high proportion were identified as polycomb target genes. The DM genes were overrepresented by transcription factors, ligands, and receptors, indicating functional alterations of significance for ccRCC progression. To conclude, increased number of hypermethylated genes was associated with increased TNM stage of the tumors. DNA methylation classification of ccRCC tumor samples at diagnosis can serve as a clinically applicable prognostic marker in ccRCC.

Nyckelord
Clear cell renal cell carcinoma, DNA methylation, Survival, Predicted age, Polycomb target genes
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
urn:nbn:se:umu:diva-126325 (URN)10.1007/s13277-016-4893-5 (DOI)000382672900022 ()26831665 (PubMedID)2-s2.0-84983616656 (Scopus ID)
Tillgänglig från: 2016-10-27 Skapad: 2016-10-03 Senast uppdaterad: 2023-03-23Bibliografiskt granskad
Köhn, L., Svenson, U., Ljungberg, B. & Roos, G. (2015). Specific Genomic Aberrations Predict Survival, But Low Mutation Rate in Cancer Hot Spots, in Clear Cell Renal Cell Carcinoma. Applied immunohistochemistry & molecular morphology (Print), 23(5), 334-342
Öppna denna publikation i ny flik eller fönster >>Specific Genomic Aberrations Predict Survival, But Low Mutation Rate in Cancer Hot Spots, in Clear Cell Renal Cell Carcinoma
2015 (Engelska)Ingår i: Applied immunohistochemistry & molecular morphology (Print), ISSN 1541-2016, E-ISSN 1533-4058, Vol. 23, nr 5, s. 334-342Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Detailed genetic profiling of clear cell renal cell carcinoma (ccRCC) has revealed genomic regions commonly affected by structural changes and a general genetic heterogeneity. VHL and PBRM1, both located at chromosome 3p, are 2 major genes mutated at high frequency but apart from these aberrations, the mutational landscape in ccRCC is largely undefined. Potential prognostic information given by the genomic changes appears to depend on the particular cohort studied. We analyzed a Swedish ccRCC cohort of 74 patients and found common changes (loss or gain occurring in >20% of the tumors) in 12 chromosomal regions (1p, 3p, 3q, 5q, 6q, 7p, 7q 8p, 9p, 9q, 10q, and 14q). A poor outcome was associated with gain of 7q and losses on 9p, 9q, and 14q. These aberrations were more frequent in metastasized tumors, suggesting alterations of genes important for tumor progression. Sequencing of 48 genes implicated in cancer revealed that only VHL, TP53, and PTEN were mutated at a noticeable frequency (51%, 9%, and 9%, respectively). Shorter relative telomere length (RTL) has been associated with loss of specific chromosomal regions in ccRCC tumors, but we could not verify this finding. However, a significantly lower tumor/nontumor (T/N) RTL ratio was detected for tumors with losses in 4q or 9p. In conclusion, poor outcome in ccRCC was associated with gain of 7q and loss on 9p, 9q, and 14q, whereas the mutation rate overall was low in a screen of cancer-associated genes.

Nyckelord
clear cell renal cell carcinoma, survival, genomic aberrations, VHL, TP53, PTEN
Nationell ämneskategori
Cell- och molekylärbiologi
Identifikatorer
urn:nbn:se:umu:diva-106138 (URN)10.1097/PAI.0000000000000087 (DOI)000354886100003 ()24992170 (PubMedID)2-s2.0-84930204947 (Scopus ID)
Tillgänglig från: 2015-07-13 Skapad: 2015-07-09 Senast uppdaterad: 2023-03-24Bibliografiskt granskad
Burstedt, M., Jonsson, F., Köhn, L., Burstedt, M., Kivitalo, M. & Golovleva, I. (2013). Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. Acta Ophthalmologica, 91(5), 437-444
Öppna denna publikation i ny flik eller fönster >>Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations
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2013 (Engelska)Ingår i: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 91, nr 5, s. 437-444Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Purpose: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia type. Methods: Compound heterozygotes for mutations in the RLBP1 gene [c.677T>A]+[c.700C>T] (p.M226K+p.R234W), n=10, aged 7-84years, and homozygotes c.677T>A (p.M226K), n=2, aged 63 and 73years, were studied using visual acuity (VA), low-contrast VA, visual fields (VFs) and optical coherence tomography (OCT). Retrospective VA and VFs, standardized dark adaptation and full-field electroretinograms (ERGs) were analysed and prolonged dark adaptometry and ERG (at 24hr) were performed. Results: Progressive decline of VA and VF areas was age-dependent. Retinal degenerative maculopathy, peripheral degenerative changes and retinitis punctata albescens (RPA) were present. Early retinal thinning in the central foveal, foveal (O 1mm), and inner ring (O 3mm) in the macular region, with homogenous, high-reflectance RPA changes, was visualized in and adjacent to the retinal pigment epithelium/choriocapillaris using OCT. Reduced dark adaptation and affected ERGs were present in all ages. Prolonged dark adaptation and ERG (at 24hr), an increase in final threshold, and ERG rod and mixed rod/cone responses were found. Conclusions: The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. The uniform phenotypical expression of RLBP1 mutations is relevant information for the disease and of importance in planning future treatment strategies.

Nyckelord
electroretinogram, optical coherence tomography, prolonged dark adaptation, retinitis pigmentosa, retinitis punctata albescens, RLBP1
Nationell ämneskategori
Allmänmedicin
Identifikatorer
urn:nbn:se:umu:diva-79415 (URN)10.1111/j.1755-3768.2012.02431.x (DOI)000321626000031 ()2-s2.0-84880274891 (Scopus ID)
Tillgänglig från: 2013-09-04 Skapad: 2013-08-19 Senast uppdaterad: 2023-03-24Bibliografiskt granskad
Reinis, A., Golovleva, I., Köhn, L. & Sandgren, O. (2013). Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. Acta Ophthalmologica, 91(3), 259-266
Öppna denna publikation i ny flik eller fönster >>Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation
2013 (Engelska)Ingår i: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 91, nr 3, s. 259-266Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Purpose: To describe in detail the phenotype of CORD5 in two families segregating a mutation c.1878G > C (p.Q626H) in the PITPNM3 gene. Methods: The study included 35 individuals from two different families of Swedish origin, all heterozygous for a PITPNM3 p.Q626H mutation. All participants underwent ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests and optical coherence tomography (OCT). Electrophysiological studies were also performed. In some cases, the data were obtained from medical records. Results: The majority of patients showed subnormal visual acuity and light sensitivity from childhood. Early signs of macular degeneration were also observed. There was a progressive decrease in visual acuity leading to legal blindness in early adulthood. Electrophysiological testing showed a progressive loss of photoreceptor function restricted mainly to the cones. OCT revealed decreased macular thickness with flattened and enlarged fovea. Conclusion: Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal degenerations mapped to 17p13. The results of our clinical evaluation so far indicate that CORD5 is characterized by predominant cone dysfunction without signs of general involvement of the retinal pigment epithelium. The rod system also seems to be unaffected. In this sense, CORD5 is different from other autosomal dominant CORDs where rod involvement is present to some degree in a late phase of the disease. Some intra-and inter-familial differences regarding the severity of the clinical picture were observed.

Nyckelord
cone-rod dystrophy, CORD5, electroretinography, mutation, optical coherence tomography, PITPNM3
Nationell ämneskategori
Medicin och hälsovetenskap
Identifikatorer
urn:nbn:se:umu:diva-71590 (URN)10.1111/j.1755-3768.2011.02381.x (DOI)000317983000032 ()2-s2.0-84876411038 (Scopus ID)
Tillgänglig från: 2013-06-05 Skapad: 2013-06-04 Senast uppdaterad: 2023-03-24Bibliografiskt granskad
Golovleva, I., Köhn, L., Burstedt, M., Daiger, S. & Sandgren, O. (2010). Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.. Advances in Experimental Medicine and Biology, 664, 255-262
Öppna denna publikation i ny flik eller fönster >>Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.
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2010 (Engelska)Ingår i: Advances in Experimental Medicine and Biology, ISSN 0065-2598, E-ISSN 2214-8019, Vol. 664, s. 255-262Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a 'founder' effect. In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novel mutations unique for this region were found. In an autosomal recessive form of RP, Bothnia dystrophy caused by mutations in the RLBP1 gene, bi-allelic mutations R234W, M226K and compound heterozygosity, M226K+R234W was detected.In dominant form of RP mapped to 19q13.42 a 59 kb genomic deletion including the PRPF31 and three other genes was found.These data provide additional information on the molecular mechanisms of RP evolvement and in the future might be useful in development of therapeutic strategies. Identification of the disease-causing mutations allowed introducing molecular genetic testing of the patients and their families into the clinical practice.

Nyckelord
retinitis pigmentosa
Nationell ämneskategori
Oftalmologi
Forskningsämne
oftalmiatrik
Identifikatorer
urn:nbn:se:umu:diva-34174 (URN)10.1007/978-1-4419-1399-9_29 (DOI)000277660900029 ()20238024 (PubMedID)2-s2.0-79952167083 (Scopus ID)744 (Lokalt ID)744 (Arkivnummer)744 (OAI)
Tillgänglig från: 2010-05-18 Skapad: 2010-05-18 Senast uppdaterad: 2023-03-24Bibliografiskt granskad
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