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Statistical Analysis of Mitochondrial Pathologies in Childhood: Identification of Deficiencies using Principal Component Analysis

Title: Statistical Analysis of Mitochondrial Pathologies in Childhood: Identification of Deficiencies using Principal Component Analysis
Authors: Durrieu, Gilles; Letellier, Thierry; Malgat, Monique; Rossignol, Rodrigues; Antoch, Jaromir; Deshouillers, Jean-Marc; Coquet, M.; Lacombe, Didier; Netter, Jc; Pedespan, Jean Michel; Redonnet-Vernhet, I.; Mazat, Jean-Pierre
Contributors: Laboratoire de Mathématiques de Bretagne Atlantique (LMBA); Université de Bretagne Sud (UBS)-Université de Brest (UBO EPE)-Centre National de la Recherche Scientifique (CNRS); Physiopathologie mitochondriale; Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM); Institut de Mathématiques de Bordeaux (IMB); Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS); Service de génétique médicale; Université de Bordeaux (UB)-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Groupe hospitalier Pellegrin; Service de pédiatrie; CHU Pellegrin
Source: ISSN: 0023-6837.
Publisher Information: CCSD; Elsevier (anciennement Nature Publishing Group)
Publication Year: 2000
Collection: Université de Bretagne Sud: HAL
Subject Terms: [STAT.AP]Statistics [stat]/Applications [stat.AP]; [SDV]Life Sciences [q-bio]
Description: International audience ; Mitochondrial pathologies are a heterogeneous group of metabolic disorders that are frequently characterized by anomalies of oxidative phosphorylation, especially in the respiratory chain. The identification of these anomalies may involve many investigations, and biochemistry is a main tool. However, considering the whole set of biochemical data, the interpretation of the results by the traditionally used statistical methods remains complex and does not always lead to an unequivocal conclusion about the presence or absence of a respiratory chain defect. This arises from three main problems: (a) the absence of an a priori-defined control population, because the determination of the control values are derived from the whole set of investigated patients, (b) the small size of the population studied, (c) the large number of variables collected, each of which creates a wide variability. To cope with these problems, the principal component analysis (PCA) has been applied to the biochemical data obtained from 35 muscle biopsies of children suspected of having a mitochondrial disease. This analysis makes it possible for each respiratory chain complex to distinguish between different subsets within the whole population (normal, deficient, and, in between, borderline subgroups of patients) and to detect the most discriminating variables. PCA of the data of all complexes together showed that mitochondrial diseases in this population were mainly caused by multiple deficits in respiratory chain complexes. This analysis allows the definition of a new subgroup of newborns, which have high respiratory chain complex activity values. Our results show that the PCA method, which simultaneously takes into account all of the concerned variables, allows the separation of patients into subgroups, which may help clinicians make their diagnoses.
Document Type: article in journal/newspaper
Language: English
Availability: https://hal.science/hal-00906813
Accession Number: edsbas.8CD10EAB
Database: BASE