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Article

MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations.

Human mutation - 1 Feb 2013

Sanaker Petter Schandl, Bindoff Laurence A

Abstract excerpt

We studied the inheritance and cellular segregation of a maternally inherited, heteroplasmic MT-ND5 mutation, m.13271T>C, previously shown to cause only exercise intolerance despite being present in multiple tissues. The mutation was present at low levels in early passage, bulk muscle culture, but on subcloning, only homoplasmic clones were found. Studies of transmission showed that the mutation expanded from...

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PMID: 23065728
DOI: 10.1002/humu.22238

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