Neurodegenerative diseases are characterized by slow progressive loss of one or more functions of the CNS. Worldwide, the number of people affected by neurodegeneration is dramatically high and the social impact is upsetting. While being a heterogeneous group of diseases, most of these pathologies manifest similar clinical features and illness progression, thus making their diagnosis elusive. With its ability to meet the needs of neurodegenerative research, proteomics could help facilitate the diagnosis of these disorders. This strategy, recently emerged as complementary to genomics, has led in the last years to substantial achievements in deciphering molecular mechanisms and the follow-up of neurodegenerative diseases. Specifically, aim of this review is to cover the main proteomic investigations realized in the field of familial frontotemporal dementias. This disorder is less common than Alzheimer's disease and disproportionately affects younger individuals, thus representing a major psychological and economic burden for both patients and families. Although early and accurate differential diagnosis of frontotemporal dementias is crucial because of its implications for heritability, prognosis, therapeutics, and environmental management of patients, the investigative methods currently available to clinicians are incomplete. Certainly, the development of a focused therapy cannot be separated from the investigation of biochemical pathways involved in the pathogenesis.

Proteomics as an innovative tool to investigate frontotemporal disorders / A.M. Agresta, A. De Palma, A. Bardoni, R. Salvini, P. Iadarola, P.L. Mauri. - In: PROTEOMICS. CLINICAL APPLICATIONS. - ISSN 1862-8346. - 10:4(2016 Apr), pp. 457-469. [10.1002/prca.201500090]

Proteomics as an innovative tool to investigate frontotemporal disorders

A.M. Agresta
Primo
;
2016

Abstract

Neurodegenerative diseases are characterized by slow progressive loss of one or more functions of the CNS. Worldwide, the number of people affected by neurodegeneration is dramatically high and the social impact is upsetting. While being a heterogeneous group of diseases, most of these pathologies manifest similar clinical features and illness progression, thus making their diagnosis elusive. With its ability to meet the needs of neurodegenerative research, proteomics could help facilitate the diagnosis of these disorders. This strategy, recently emerged as complementary to genomics, has led in the last years to substantial achievements in deciphering molecular mechanisms and the follow-up of neurodegenerative diseases. Specifically, aim of this review is to cover the main proteomic investigations realized in the field of familial frontotemporal dementias. This disorder is less common than Alzheimer's disease and disproportionately affects younger individuals, thus representing a major psychological and economic burden for both patients and families. Although early and accurate differential diagnosis of frontotemporal dementias is crucial because of its implications for heritability, prognosis, therapeutics, and environmental management of patients, the investigative methods currently available to clinicians are incomplete. Certainly, the development of a focused therapy cannot be separated from the investigation of biochemical pathways involved in the pathogenesis.
Biomarkers; Familial neurodegeneration; Frontotemporal dementia; Proteomics; Alzheimer Disease; Biomarkers; Chromatography, Liquid; Diagnosis, Differential; Disease Progression; Electrophoresis, Gel, Two-Dimensional; Frontal Lobe; Frontotemporal Dementia; Gene Expression Regulation; Humans; Nerve Tissue Proteins; Proteomics; Signal Transduction; Tandem Mass Spectrometry; Temporal Lobe; Clinical Biochemistry
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/469957
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