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

Publication date: Available online 10 November 2018Source: MitochondrionAuthor(s): Piekutowska-Abramczuk Dorota, Kaliszewska Magdalena, Sułek Anna, Jurkowska Natalia, Ołtarzewski Mariusz, Jabłońska Ewa, Trubicka Joanna, Głowacka Aleksandra, Ciara Elżbieta, Kowalski Paweł, Langiewicz-Wojciechowska Karolina, Tesarova Marketa, Zeman Jiri, Kierdaszuk Biruta, Kuczyński Dariusz, Chmielewski Dariusz, Szymańska Edyta, Bakuła Agnieszka, Lusakowska Anna, Lipowska MartaAbstractDiseases 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.
Source: Mitochondrion - Category: Biochemistry Source Type: research