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  • Nordin, AngelicaUmeå universitet,Klinisk neurovetenskap (author)

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

  • Article/chapterEnglish2015

Publisher, publication year, extent ...

  • 2015-02-23
  • Oxford University Press (OUP),2015
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-103256
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-103256URI
  • https://doi.org/10.1093/hmg/ddv064DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However, little is known about the variability of the GGGGCC expansion in different tissues and whether this correlates with the observed phenotype. Here, we used Southern blotting to estimate the size of hexanucleotide expansions in C9orf72 in neural and non-neural tissues from 18 autopsied ALS and FTD patients with repeat expansion in blood. Digitalization of the Southern blot images allowed comparison of repeat number, smear distribution and expansion band intensity between tissues and between patients. We found marked intra-individual variation of repeat number between tissues, whereas there was less variation within each tissue group. In two patients, the size variation between tissues was extreme, with repeat numbers below 100 in all studied non-neural tissues, whereas expansions in neural tissues were 20-40 times greater and in the same size range observed in neural tissues of the other 16 patients. The expansion pattern in different tissues could not distinguish between diagnostic groups and no correlation was found between expansion size in frontal lobe and occurrence of cognitive impairment. In ALS patients, a less number of repeats in the cerebellum and parietal lobe correlated with earlier age of onset and a larger number of repeats in the parietal lobe correlated with a more rapid progression. In 43 other individuals without repeat expansion in blood, we find that repeat sizes up to 15 are stable, as no size variation between blood, brain and spinal cord was found.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Akimoto, ChizuruUmeå universitet,Klinisk neurovetenskap,Division of Neurology, Department of Internal Medicine, Jichi Medical University, 3311-1 Yakushiji Shimotsukeshi, Tochigi 329-0498, Japan(Swepub:umu)chak0009 (author)
  • Wuolikainen, AnnaUmeå universitet,Kemiska institutionen(Swepub:umu)anawun00 (author)
  • Alstermark, HelenaUmeå universitet,Klinisk neurovetenskap(Swepub:umu)heal0001 (author)
  • Jonsson, PärUmeå universitet,Kemiska institutionen(Swepub:umu)parjon95 (author)
  • Birve, AnnaUmeå universitet,Klinisk neurovetenskap(Swepub:umu)anbi0001 (author)
  • Marklund, Stefan LUmeå universitet,Institutionen för medicinsk biovetenskap(Swepub:umu)stma0003 (author)
  • Graffmo, Karin SUmeå universitet,Institutionen för medicinsk biovetenskap(Swepub:umu)kanerl79 (author)
  • Forsberg, KarinUmeå universitet,Institutionen för medicinsk biovetenskap(Swepub:umu)nonkin02 (author)
  • Brännström, ThomasUmeå universitet,Institutionen för medicinsk biovetenskap(Swepub:umu)thbr0001 (author)
  • Andersen, Peter MUmeå universitet,Klinisk neurovetenskap(Swepub:umu)pean0001 (author)
  • Umeå universitetKlinisk neurovetenskap (creator_code:org_t)

Related titles

  • In:Human Molecular Genetics: Oxford University Press (OUP)24:11, s. 3133-31420964-69061460-2083

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