A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro
Open accessAbstract
Cyclic adenosine 5'diphosphate-ribose (cADPR) is thought to have a second messenger role in insulin secretion through mobilisation of Ca2+. As human lymphocyte antigen CD38 has both ADP-ribosyl cyclase and cADPR hydrolase activity, it may be important in glucose-induced insulin secretion in islets. Thirty one randomly selected Japanese patients with Type II diabetes mellitus who had first-degree and/or second-degree relative(s) with Type II diabetes mellitus were screened for mutations of this gene using single-stranded conformation polymorphism. Two variant patterns in exon 3 and exon 4 of the CD38 gene were identified. The variant in exon 3 resulted in an amino acid substitution from Arg140 (CGG) to Trp (TGG). The Arg140Trp mutation was observed in 4 of 31 patients, and allele frequencies were significantly different in patients and the control subjects (p = 0.004). One patient with this mutation has two missense mutations on beta cell/liver glucose transporter (GLUT2) gene; her mother, who has impaired glucose tolerance, also has this mutation on the CD38 gene and one missense mutation on the GLUT2 gene. Enzyme activity studies using COS-7 cells expressing the Arg140Trp mutation showed a reduction in ADP-ribosyl cyclase and cADPR hydrolase activity of around 50%. The Arg140Trp mutation on CD38 thus appears to contribute to the development of Type II diabetes mellitus via the impairment of glucose-induced insulin secretion in the presence of other genetic defects.
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Mutant R140W-CD38 shows one-third of the ADP-ribosyl cyclase activity of R140 CD38 when expressed in CHO cells.
“As expected, the mutant R140W-CD38 showed one-third of the ADP-ribosyl cyclase activity of R140 CD38 when expressed in CHO cells (Yagui et al., 1998).”
From CD38 and its role in oxytocin secretion and social behavior (2012) · cites this paper as Yagui et al., 1998
In CHO cells, W140-CD38 protein possesses only one third of the ADP-ribosyl cyclase activity of R140-CD38.
“In CHO cells, in fact, the W140-CD38 protein possesses only one third of the ADP-ribosyl cyclase activity of R140-CD38 (Yagui et al., 1998).”
From Two genetic variants of CD38 in subjects with autism spectrum disorder and controls (2010) · cites this paper as Yagui et al., 1998
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- Authors
- Yagui, K., Shimada, F., Mimura, M., Hashimoto, N., Suzuki, Y., Tokuyama, Y., Nata, K., Tohgo, A., Ikehata, F., Takasawa, S., Okamoto, H., Makino, H., Saito, Y., & Kanatsuka, A.
- Affiliations
- Chiba University (JP)
- Chiba Rosai Hospital (JP)
- Tohoku University (JP)
- Ehime University (JP)
- Venue
- Diabetologia
- Published
- 1998-08-19
- Volume
- 41
- Issue
- 9
- Pages
- 1024-1028
- ISSN
- 0012-186X (ISSN-L)
- 1432-0428
- OpenAlex
- W2046876844
- Cited by
- 74
- References
- 31
- Citations by year
- 2026: 1 · 2024: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 1 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 4
- FWCI
- 5.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Diabetologia (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Chiba University
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Calcium signaling and nucleotide metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- CD38, type 2 diabetes, missense mutations, cyclic ADP-ribose, ADP-ribosyl cyclase, insulin secretion, islets, GLUT2, impaired glucose tolerance, genetic susceptibility, Japanese patients
- MeSH terms
- Insulin Secretion, Animals, Antigens, Differentiation, Diabetes Mellitus, Type 2, Exons, Female, Gene Frequency, Humans, Insulin, Japan, Male, Membrane Glycoproteins, Middle Aged, Multienzyme Complexes, NAD+ Nucleosidase, Antigens, CD, Mutagenesis, Site-Directed, Polymorphism, Single-Stranded Conformational, COS Cells, Amino Acid Substitution, Mutation, Missense, ADP-ribosyl Cyclase, ADP-ribosyl Cyclase 1, In Vitro Techniques
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