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Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (Articolo in rivista)

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Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (Articolo in rivista) (literal)

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Mancuso M (a); Conforti FL (b); Rocchi A (a); Tessitore A (c); Muglia M (b); Tedeschi G (c); Panza D (c); Monsurrò M (c); Sola P (d); Mandrioli J (d); Choub A (a); DelCorona A (a); Manca ML (a); Mazzei R (b); Sprovieri T (b); Filosto M (e); Salviati A (e); Valentino P (f); Bono F (f); Caracciolo M (b); Simone IL (g); La Bella V (h); Majorana G (i); Siciliano G (a); Murri L (a); Quattrone A (b-f) (2004)
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
in Neuroscience letters (Print)
(literal)

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Mancuso M (a); Conforti FL (b); Rocchi A (a); Tessitore A (c); Muglia M (b); Tedeschi G (c); Panza D (c); Monsurrò M (c); Sola P (d); Mandrioli J (d); Choub A (a); DelCorona A (a); Manca ML (a); Mazzei R (b); Sprovieri T (b); Filosto M (e); Salviati A (e); Valentino P (f); Bono F (f); Caracciolo M (b); Simone IL (g); La Bella V (h); Majorana G (i); Siciliano G (a); Murri L (a); Quattrone A (b-f) (literal)

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(a) Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy (b) Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy (c) Second Division of Neurology, Second University of Naples, Naples, Italy (d) Department of Neuroscience, University of Modena and Reggio Emilia, Modena, Italy (e) Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy (f) Institute of Neurology, University Magna Graecia, Catanzaro, Italy (g) Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy (h) Department of Neurology and Psychiatry, University of Palermo, Palermo, Italy (i) Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Messina, Italy (literal)

Titolo

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (literal)

Abstract

Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrialspecific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying the most common haplogroup, H (odds ratio 0.08, 95% confidence interval 0.04-0.4, p < 0.01). Further stratification of the dataset by sex, age and site of onset of disease and survival failed to reach significance for association. Our study provides evidence of the contribution of mitochondrial variation to the risk of ALS development in Caucasians. Further it may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease. (literal)

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