title: Mitochondrial disease heterogeneity: a prognostic challenge.
abstract: Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement of various organs which makes the prognosis unpredictable both within the same family and among families with the same mutation. This is particularly, but not exclusively, true for mitochondrial disorders caused by mtDNA point mutations, which are maternally inherited and subject to the randomness of the heteroplasmy. For this reason, the prognosis cannot be given by single mitochondrial disease, but should be formulated by any single mitochondrial disease-related event or complication keeping in mind that early recognition and treatment of symptoms are crucial for the prognosis. The following approach can help prevent severe organ dysfunctions or at least allow early diagnosis and treatment of disease-related complications.
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Irene
authors.initials: I
authors.lastname: Colombo
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Peverelli
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Luisa
authors.initials: L
authors.lastname: Villa
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Rubjona
authors.initials: R
authors.lastname: Xhani
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Silvia
authors.initials: S
authors.lastname: Testolin
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, New York, USA.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Di Mauro
authors.affiliation: UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
mesh_terms: D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D011379:Prognosis
keywords: clinical heterogeneity; dual genetic control; intrafamilial variability; multisystem disorders