NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
Abstract Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patients from mainland China. This finding was not confir...
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| Format: | Article |
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Nature Portfolio
2023-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-30393-6 |
| _version_ | 1797864860604694528 |
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| author | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Giacomo Pietro Comi Stefania Corti Dario Ronchi |
| author_facet | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Giacomo Pietro Comi Stefania Corti Dario Ronchi |
| author_sort | Arianna Manini |
| collection | DOAJ |
| description | Abstract Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patients from mainland China. This finding was not confirmed in an ALS cohort of subjects from Taiwan. As the involvement of expanded NOTCH2NLC alleles in ALS is debated, we addressed this point by evaluating NOTCH2NLC repeat expansions in an Italian cohort of ALS patients. A screening analysis of NOTCH2NLC GGC repeats was performed by repeat-primed polymerase chain reaction (RP-PCR) in a cohort of 385 probable/definite ALS Italian patients. Mean age at onset was 60.5 years (SD 13.7), and 60.9% were males. Sporadic cases were 357 (92.7%), and most patients had a spinal onset (71.8%). None of our patients showed the typical sawtooth tail pattern on RP-PCR, thus excluding abnormal repeat expansion in NOTCH2NLC. Overall, we suggest that NOTCH2NLC expanded alleles might be absent or at least extremely rare in ALS Italian patients. Further investigations in larger cohorts with different ethnic backgrounds are required to support the involvement of NOTCH2NLC in ALS. |
| first_indexed | 2024-04-09T22:59:54Z |
| format | Article |
| id | doaj.art-c9c9490f38d74103a17089462eeed7db |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-09T22:59:54Z |
| publishDate | 2023-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
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| spelling | doaj.art-c9c9490f38d74103a17089462eeed7db2023-03-22T11:05:51ZengNature PortfolioScientific Reports2045-23222023-02-011311610.1038/s41598-023-30393-6NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patientsArianna Manini0Delia Gagliardi1Megi Meneri2Sara Antognozzi3Roberto Del Bo4Giacomo Pietro Comi5Stefania Corti6Dario Ronchi7Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanNeuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of MilanAbstract Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patients from mainland China. This finding was not confirmed in an ALS cohort of subjects from Taiwan. As the involvement of expanded NOTCH2NLC alleles in ALS is debated, we addressed this point by evaluating NOTCH2NLC repeat expansions in an Italian cohort of ALS patients. A screening analysis of NOTCH2NLC GGC repeats was performed by repeat-primed polymerase chain reaction (RP-PCR) in a cohort of 385 probable/definite ALS Italian patients. Mean age at onset was 60.5 years (SD 13.7), and 60.9% were males. Sporadic cases were 357 (92.7%), and most patients had a spinal onset (71.8%). None of our patients showed the typical sawtooth tail pattern on RP-PCR, thus excluding abnormal repeat expansion in NOTCH2NLC. Overall, we suggest that NOTCH2NLC expanded alleles might be absent or at least extremely rare in ALS Italian patients. Further investigations in larger cohorts with different ethnic backgrounds are required to support the involvement of NOTCH2NLC in ALS.https://doi.org/10.1038/s41598-023-30393-6 |
| spellingShingle | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Giacomo Pietro Comi Stefania Corti Dario Ronchi NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients Scientific Reports |
| title | NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients |
| title_full | NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients |
| title_fullStr | NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients |
| title_full_unstemmed | NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients |
| title_short | NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients |
| title_sort | notch2nlc ggc repeats are not expanded in italian amyotrophic lateral sclerosis patients |
| url | https://doi.org/10.1038/s41598-023-30393-6 |
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