The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Adolescent Adult Amino Acid Substitution Ataxia / enzymology Child Child, Preschool DNA Polymerase gamma / genetics Diffuse Cerebral Sclerosis of Schilder / enzymology Female Genes, Recessive Humans Infant Infant, Newborn Male Middle Aged Mitochondrial Diseases / enzymology Mutation, Missense Poland
Common POLG mutations DNA polymerase gamma Epidemiology Mitochondrial disease Recessive inherited ataxia

Journal

Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751

Informations de publication

Date de publication:
07 2019
Historique:
received: 28 07 2018
revised: 02 10 2018
accepted: 02 11 2018
pubmed: 14 11 2018
medline: 28 4 2020
entrez: 14 11 2018
Statut: ppublish

Résumé

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n = 3123) and in a clinically heterogeneous group of 1289 patients. Recessive pathogenic variants, including six novel ones were revealed in 22/26 patients. Infantile Alpers-Huttenlocher syndrome and adulthood ataxia spectrum were the most common found in our group. Distinct molecular profile identified in the Polish patients with significant predominance of p.Trp748Ser variant (50% of mutant alleles) reflected strikingly low population frequency of the three remaining variants and slightly higher p.Trp748Ser allele frequency in the general Polish population as compared to the non-Finish European population.

Identifiants

DOI: 10.1016/j.mito.2018.11.004 PMID: 30423451
pubmed: 30423451
pii: S1567-7249(18)30184-3
doi: 10.1016/j.mito.2018.11.004
pii:
doi:

Substances chimiques

DNA Polymerase gamma EC 2.7.7.7
POLG protein, human EC 2.7.7.7

Types de publication

Clinical Trial Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

179-187

Informations de copyright

Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Auteurs

Dorota Piekutowska-Abramczuk (D)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address: d.abramczuk@ipczd.pl.

Magdalena Kaliszewska (M)

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.

Anna Sułek (A)

Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.

Natalia Jurkowska (N)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Mariusz Ołtarzewski (M)

Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.

Ewa Jabłońska (E)

Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.

Joanna Trubicka (J)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Aleksandra Głowacka (A)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Elżbieta Ciara (E)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Paweł Kowalski (P)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Karolina Langiewicz-Wojciechowska (K)

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.

Marketa Tesarova (M)

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 455/2, 128 08 Prague 2, Czech Republic.

Jiri Zeman (J)

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 455/2, 128 08 Prague 2, Czech Republic.

Biruta Kierdaszuk (B)

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Dariusz Kuczyński (D)

Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Dariusz Chmielewski (D)

Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Edyta Szymańska (E)

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Agnieszka Bakuła (A)

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Anna Łusakowska (A)

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Marta Lipowska (M)

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Bogdan Brodacki (B)

Clinic of Neurology, Military Institute of Medicine, Szaserow 128, 04-349 Warsaw, Poland.

Joanna Pera (J)

Department of Neurology, Jagiellonian University Medical College, Botaniczna 3, 31-503 Krakow, Poland.

Małgorzata Dorobek (M)

Department of Neurology, Central Clinical Hospital of the Ministry of Interior in Warsaw, Woloska 137, 02-507 Warsaw, Poland.

Małgorzata Rydzanicz (M)

Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.

Rafał Płoski (R)

Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.

Krystyna Halina Chrzanowska (KH)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Ewa Bartnik (E)

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106 Warsaw, Poland.

Grzegorz Placha (G)

Department of Internal Medicine, Hypertension, and Vascular Diseases, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Anna Kamińska (A)

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Anna Kostera-Pruszczyk (A)

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Małgorzata Krajewska-Walasek (M)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

Katarzyna Tońska (K)

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.

Ewa Pronicka (E)

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Substitution d'acide aminé › The frequency of mitochondrial polymerase...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › DNA Polymerase gamma › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Maladies auto-immunes du système nerveux › Maladies démyélinisantes auto-immunes du SNC › Sclérose cérébrale diffuse de Schilder › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › The frequency of mitochondrial polymerase...
questionsmedicales.fr › Régions géographiques › Europe › Europe de l'Est › Pologne › The frequency of mitochondrial polymerase...