A hemizygous GYG2 mutation and Leigh syndrome: a possible link? View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-02

AUTHORS

Eri Imagawa, Hitoshi Osaka, Akio Yamashita, Masaaki Shiina, Eihiko Takahashi, Hideo Sugie, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Kazuhiro Ogata, Naomichi Matsumoto, Noriko Miyake

ABSTRACT

Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder characterized by unique, bilateral neuropathological findings in brainstem, basal ganglia, cerebellum and spinal cord. LS is genetically heterogeneous, with the majority of the causative genes affecting mitochondrial malfunction, and many cases still remain unsolved. Here, we report male sibs affected with LS showing ketonemia, but no marked elevation of lactate and pyruvate. To identify their genetic cause, we performed whole exome sequencing. Candidate variants were narrowed down based on autosomal recessive and X-linked recessive models. Only one hemizygous missense mutation (c.665G>C, p.W222S) in glycogenin-2 (GYG2) (isoform a: NM_001079855) in both affected sibs and a heterozygous change in their mother were identified, being consistent with the X-linked recessive trait. GYG2 encodes glycogenin-2 (GYG2) protein, which plays an important role in the initiation of glycogen synthesis. Based on the structural modeling, the mutation can destabilize the structure and result in protein malfunctioning. Furthermore, in vitro experiments showed mutant GYG2 was unable to undergo the self-glucosylation, which is observed in wild-type GYG2. This is the first report of GYG2 mutation in human, implying a possible link between GYG2 abnormality and LS. More... »

PAGES

225-234

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-013-1372-6

DOI

http://dx.doi.org/10.1007/s00439-013-1372-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051915552

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24100632


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