Aims During these years many genetic studies using deep sequencing techniques have underlined genetic comorbidities in neurodegenerative disorders shaking the specific relationship between gene and pathology. Herein we have performed a genetic comorbidities study in Parkinson’s Disease (PD) never described in literature. Our objective was to analyze a cohort of Italian Parkinson samples by screening the most relevant (PD) related genes together with hereditary neurodegenerative disorders genes, Peripheral Nervous System (PNS) genes and Inherited Neuromuscular Disorder genes. Method Next Generation Sequencing (NGS) analysis and Multiplex ligation-dependent probe amplification (MLPA) has been performed in a cohort of 83 idiopathic PD Italian patients. MLPA kit was composed by 8 PD genes while SureSelect Agilent platform by 100 neurodegenerative disease genes. Data collected from NGS experiments were analyzed in order to identify single nucleotide variants and small insertions/deletion. Results Data analysis showed the presence of non-synonymous mutations in 20 (24%) of PD patients. We observed new non-synonymous mutations in PD genes as GBA, LRRK2, PINK1, ATP13A2 and PARK2. The most interesting data concerned non-synonymous mutations found in non PD genes as MFN2 (related to Charcot-Marie-Tooth), CYP27A1 (related to Cerebrotendinous Xanthomatosis) and SPG11 (related to Spastic paraplegia). Conclusion NGS data report variations in non PD genes opening intriguing prospective in the genetics of PD whereit is clear that the old genotype-phenotype vision is very simplistic and that the approach to the neurodegenerative diseases must be change.

Study of genetic comorbidities in parkinson’s disease patients / M. Valente, S. Gagliardi, R. Zangaglia, I. Palmieri, F. Rey, J. Garau, I. Ricca, S. Zucca, C. Pacchetti, C. Cereda. - In: NEURODEGENERATIVE DISEASES. - ISSN 1660-2854. - 17:suppl. 1(2017), pp. 1614-1614. ((Intervento presentato al 13. convegno International Conference on Alzheimer's and Parkinson's Diseases and Related Neurological Disorders tenutosi a Wien nel 2017.

Study of genetic comorbidities in parkinson’s disease patients

F. Rey;
2017

Abstract

Aims During these years many genetic studies using deep sequencing techniques have underlined genetic comorbidities in neurodegenerative disorders shaking the specific relationship between gene and pathology. Herein we have performed a genetic comorbidities study in Parkinson’s Disease (PD) never described in literature. Our objective was to analyze a cohort of Italian Parkinson samples by screening the most relevant (PD) related genes together with hereditary neurodegenerative disorders genes, Peripheral Nervous System (PNS) genes and Inherited Neuromuscular Disorder genes. Method Next Generation Sequencing (NGS) analysis and Multiplex ligation-dependent probe amplification (MLPA) has been performed in a cohort of 83 idiopathic PD Italian patients. MLPA kit was composed by 8 PD genes while SureSelect Agilent platform by 100 neurodegenerative disease genes. Data collected from NGS experiments were analyzed in order to identify single nucleotide variants and small insertions/deletion. Results Data analysis showed the presence of non-synonymous mutations in 20 (24%) of PD patients. We observed new non-synonymous mutations in PD genes as GBA, LRRK2, PINK1, ATP13A2 and PARK2. The most interesting data concerned non-synonymous mutations found in non PD genes as MFN2 (related to Charcot-Marie-Tooth), CYP27A1 (related to Cerebrotendinous Xanthomatosis) and SPG11 (related to Spastic paraplegia). Conclusion NGS data report variations in non PD genes opening intriguing prospective in the genetics of PD whereit is clear that the old genotype-phenotype vision is very simplistic and that the approach to the neurodegenerative diseases must be change.
Settore BIO/11 - Biologia Molecolare
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/605064
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