Journal of Applied Genetics 42(1), 2001, pp. 103-108
SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome
Dorota PIEKUTOWSKA-ABRAMCZUK, Ewa POPOWSKA, Ewa PRONICKA, Elzbieta KARCZMAREWICZ, Maciej PRONICKI, Tomasz KMIEC, Malgorzata KRAJEWSKA-WALASEK
Abstract: Abstract. One of the most frequent forms of Leigh syndrome (LS), a severe neurodegenerative, genetically heterogenous disease, is associated with cytochrome c oxidase (COX) deficiency. No mutations in any of the 13 polypeptide subunits of human COX have been detected in LS patients. Recently, SURF1, a positional candidate gene for LS has been identified on chromosome 9q34. We present the identification of SURF1 mutations in a randomly chosen group of Polish patients with a classical form of LS. Sequence analysis revealed the presence of a novel 704T?C transition (Met235Thr), and two recurrent dinucleotide deletions (758delCA, 845delCT), as well as one novel polymorphic 573C?G transversion (Thr191Thr). 845delCT was identified in 66% of all our patients in homozygous or heterozygous form. Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome.
Key words: COX deficiency, deletions, Leigh syndrome, polymorphism, substitution, SURF1 gene mutations
Correspondence: D. Piekutowska-Abramczuk, Children’s Memorial Health Institute, Department of Medical Genetics, Al. Dzieci Polskich 20, 04-730 Warszawa, Poland, e-mail: email@example.com