Rare Variant in Metallothionein 1E Increases the Risk of Type 2 Diabetes in a Chinese Population
Authors' conclusion
Our results suggest that MT1E could be a promising target for drug development, because forced expression of MT1E p.C36C stabilized glucose metabolism and reduced body weight, whereas MT1E p.C36Y expression had the opposite effect. These findings highlight the importance of considering the impact of rare variants in the development of new T2D treatments.
Study context
- Population
- A three-generation family with diabetes, additional families, and diabetes- and community-based cohorts in a Chinese population; transgenic mice
- Comparison
- MT1E p.C36Y variant carriers vs wild-type allele carriers
Methodological detailswhole-exome sequencing, Sanger sequencing validation, transgenic mouse models
- Whole-exome sequencing
- Sanger sequencing validation
- Transgenic mouse models
Main finding
As reported in the abstract
- Rare MT1E variant p.C36Y identified in a three-generation family with diabetes
- Risk allele associated with T2D or prediabetes in a community-based cohort
- MT1E p.C36 carriers had higher HbA1c and greater BMI than wild-type allele carriers
- Mice with forced MT1E p.C36Y expression: increased weight gain, elevated postchallenge serum glucose and liver enzymes, hepatic steatosis
- Mice with forced MT1E p.C36C expression: reduced weight, lower serum glucose and serum TG
- Forced expression of wild-type and variant MT1E showed differential expression of lipid metabolism genes
Original publication
Rare Variant in Metallothionein 1E Increases the Risk of Type 2 Diabetes in a Chinese Population. Diabetes Care. Published 25 October 2023. doi:10.
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