Petri Luoma
University of Helsinki
11 Papers
42 Citations
Petri Luoma is an academic researcher from University of Helsinki. The author has contributed to research in topics: Mitochondrial DNA & Ataxia. The author has an hindex of 9, co-authored 11 publications. Previous affiliations of Petri Luoma include Helsinki University Central Hospital.
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Papers
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
Anna H. Hakonen,Silja Heiskanen,Vesa Juvonen,Ilse Lappalainen,Petri Luoma,Maria Rantamäki,Gert Van Goethem,Ann Löfgren,Peter Hackman,Anders Paetau,Seppo Kaakkola,Kari Majamaa,Teppo Varilo,Bjarne Udd,Helena Kääriäinen,Laurence A. Bindoff,Anu Suomalainen +16 more
TL;DR: The high carrier frequency in Finland, the high number of patients in Norway, and the ancient European founder chromosome indicate that this newly identified ataxia should be considered in the first-line differential diagnosis of progressive atAXia syndromes.
341
Twinkle and POLG defects enhance age‐dependent accumulation of mutations in the control region of mtDNA
Sjoerd Wanrooij,Petri Luoma,Gert Van Goethem,Christine Van Broeckhoven,Anu Suomalainen,Johannes N. Spelbrink +5 more
TL;DR: Both deleted and non-deleted mtDNA molecules showed increased point mutation levels, as did mtDNAs of patients with a single mtDNA deletion, suggesting that point mutations do not cause multiple deletions, and proposes replication stalling as the principal cause of deletion formation.
137
Two families with autosomal dominant progressive external ophthalmoplegia
Stefan Kiechl,Rita Horvath,Petri Luoma,U. Kiechl-Kohlendorfer,B Wallacher-Scholz,R Stucka,Claudia Thaler,Julia Wanschitz,Anu Suomalainen,Michaela Jaksch,Johann Willeit +10 more
TL;DR: The clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO) are reported, adding a novel pathogenic mutation in Twinkle (F485L) to the growing list of genetic abnormalities in adPEO, and reinforce the relevance of other yet unidentified genes in mtDNA maintenance and pathogenesis of ad PEO.
31
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
Atle Melberg,Inger Nennesmo,Ali-Reza Moslemi,Gittan Kollberg,Petri Luoma,Anu Suomalainen,Elisabeeth Holme,Anders Oldfors +7 more
TL;DR: Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coicidence?
20
Do carriers of POLG mutation W748S have disease manifestations
Maria Rantamäki,Petri Luoma,Petri Luoma,Jyri J. Virta,Juha O. Rinne,Anders Paetau,Anders Paetau,Anu Suomalainen,Anu Suomalainen,Bjarne Udd +9 more
TL;DR: All available members of the original large MIRAS family with W748S mutation showed no clinically manifesting phenotype, and cerebral glucose metabolism was moderately reduced in two out of four heterozygotes compared with severe reduction in one MIRas patient.
10