The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
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 (nâ¯=â¯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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Ataxia
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Esclerose Cerebral Difusa de Schilder
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Mutação de Sentido Incorreto
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Doenças Mitocondriais
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DNA Polimerase gama
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Genes Recessivos
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
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Child
/
Child, preschool
/
Female
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Humans
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Infant
/
Male
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Middle aged
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Revista:
Mitochondrion
Ano de publicação:
2019
Tipo de documento:
Article