Your browser doesn't support javascript.
loading
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk, Dorota; Kaliszewska, Magdalena; Sulek, Anna; Jurkowska, Natalia; Oltarzewski, Mariusz; Jablonska, Ewa; Trubicka, Joanna; Glowacka, Aleksandra; Ciara, Elzbieta; Kowalski, Pawel; Langiewicz-Wojciechowska, Karolina; Tesarova, Marketa; Zeman, Jiri; Kierdaszuk, Biruta; Kuczynski, Dariusz; Chmielewski, Dariusz; Szymanska, Edyta; Bakula, Agnieszka; Lusakowska, Anna; Lipowska, Marta; Brodacki, Bogdan; Pera, Joanna; Dorobek, Malgorzata; Rydzanicz, Malgorzata; Ploski, Rafal; Chrzanowska, Krystyna Halina; Bartnik, Ewa; Placha, Grzegorz; Kaminska, Anna; Kostera-Pruszczyk, Anna; Krajewska-Walasek, Malgorzata; Tonska, Katarzyna; Pronicka, Ewa.
Afiliação
  • 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.
  • Kaliszewska M; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • Sulek A; Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.
  • Jurkowska N; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Oltarzewski M; Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Jablonska E; Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Trubicka J; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Glowacka A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Kowalski P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Langiewicz-Wojciechowska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • 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.
  • 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.
  • Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kuczynski D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Chmielewski D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Szymanska E; Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Bakula A; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Lusakowska A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Lipowska M; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Brodacki B; Clinic of Neurology, Military Institute of Medicine, Szaserow 128, 04-349 Warsaw, Poland.
  • Pera J; Department of Neurology, Jagiellonian University Medical College, Botaniczna 3, 31-503 Krakow, Poland.
  • Dorobek M; Department of Neurology, Central Clinical Hospital of the Ministry of Interior in Warsaw, Woloska 137, 02-507 Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.
  • Chrzanowska KH; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • 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.
  • Placha G; Department of Internal Medicine, Hypertension, and Vascular Diseases, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kaminska A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Tonska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • 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.
Mitochondrion ; 47: 179-187, 2019 07.
Article em En | MEDLINE | ID: mdl-30423451
ABSTRACT
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.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Esclerose Cerebral Difusa de Schilder / Mutação de Sentido Incorreto / Doenças Mitocondriais / DNA Polimerase gama / Genes Recessivos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Esclerose Cerebral Difusa de Schilder / Mutação de Sentido Incorreto / Doenças Mitocondriais / DNA Polimerase gama / Genes Recessivos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article