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The m.7510T > C mutation: Hearing impairment and a complex neurologic phenotype

Laura Kytövuori; Maria Gardberg; Mika H. Martikainen; Kari Majamaa

The m.7510T > C mutation: Hearing impairment and a complex neurologic phenotype

Laura Kytövuori
Maria Gardberg
Mika H. Martikainen
Kari Majamaa
Katso/Avaa
Kyt-vuori_et_al-2017-Brain_and_Behavior.pdf (663.0Kb)
Lataukset: 

WILEY
doi:10.1002/brb3.859
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Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021042718044
Tiivistelmä
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.

Materials and Methods: We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.ResultsThe family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a mild phenotype comprising ataxia and tremor in addition to HI. Mutation heteroplasmy was 90% in the blood of maternal grandmother and 99% in the muscle and blood of the three other family members. Muscle histology was consistent with mitochondrial myopathy in three family members. The mitochondrial haplogroup of the family was a different branch of the haplogroup H than in the previous reports of this mutation.

Conclusion: Our results suggest that, in addition to sensorineural HI, the m.7510T>C mutation is associated with a spectrum of mitochondrial disease clinical features including migraine, epilepsy, cognitive impairment, ataxia, and tremor, and with evidence of mitochondrial myopathy.
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