Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population

Gopi, Sundaramoorthy; Gowri, P Mangala; Panda, Jayant K.; Sathyanarayana, Santhosh Olety; Gupta, Sunil; Chandru, Sundaramoorthy; Chandni, R; Raghupathy, P.; Dayal, Devi; Mohan, Viswanathan; Radha, Venkatesan

doi:10.1016/j.jdiacomp.2021.108022

Cited by 6 publications

(9 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations at this residue result in the inability to form one of two disulfide bonds between the B-chain and A-chain [ 4 , 41 , 63 , 64 ]. Additionally, p.C109F; ( A20 ) , p.C109Y; ( A20 ) , p.C109R; ( A20 ) , p.C109G; ( A20 ) , and p.C109S; ( A20 ) also cause NDM by preventing the formation of the A20–B19 disulfide bridge [ 4 , 65 , 66 , 67 ]. Similarly, p.C31Y; ( B7 ) and p.C31R; ( B7 ) result in NDM by hindering appropriate folding and leading to ER retention and stress, due to preventing the formation of the B7–A7 disulfide bridge [ 4 , 52 ].…”

Section: Insulin Gene Mutationsmentioning

confidence: 99%

“…However, depending on the conformational folding of the resultant mutants, differences in ER stress severity and age of disease onset are observed [ 55 ]. p.F48C; ( B24 ) is a B-chain mutation that introduces a cysteine residue, and the mutant is completely retained in the ER, leading to NDM [ 41 , 64 , 67 ]. p.Y50C; ( B26 ), p.G69C ( C-peptide ) , p.G75C ( C-peptide ), p.S85C ( C-peptide ) , and p.S98C; ( A9 ) also cause NDM, likely due to impairing correct disulfide bond formation, leading to considerable misfolding [ 4 , 67 , 69 ].…”

Section: Insulin Gene Mutationsmentioning

confidence: 99%

See 1 more Smart Citation

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

Ataie-Ashtiani

Forbes

2023

Cells

View full text Add to dashboard Cite

The discovery of the insulin hormone over 100 years ago, and its subsequent therapeutic application, marked a key landmark in the history of medicine and medical research. The many roles insulin plays in cell metabolism and growth have been revealed by extensive investigations into the structure and function of insulin, the insulin tyrosine kinase receptor (IR), as well as the signalling cascades, which occur upon insulin binding to the IR. In this review, the insulin gene mutations identified as causing disease and the structural implications of these mutations will be discussed. Over 100 studies were evaluated by one reviewing author, and over 70 insulin gene mutations were identified. Mutations may impair insulin gene transcription and translation, preproinsulin trafficking and proinsulin sorting, or insulin-IR interactions. A better understanding of insulin gene mutations and the resultant pathophysiology can give essential insight into the molecular mechanisms underlying impaired insulin biosynthesis and insulin-IR interaction.

show abstract

Section: Insulin Gene Mutationsmentioning

confidence: 99%

Section: Insulin Gene Mutationsmentioning

confidence: 99%

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

Ataie-Ashtiani

Forbes

2023

Cells

View full text Add to dashboard Cite

show abstract

“…Tables 1 and 2 summarize the important published data on the occurrence of different types of monogenic diabetes in India. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] Are there regional differences in the way monogenic diabetes presents in India?…”

Section: What Are the Common Forms Of Monogenic Diabetes Seen Among I...mentioning

confidence: 99%

“…Homozygous GCK gene mutation -2 (siblings) TRMA gene mutation -2 (siblings) IPEX syndrome -1 Wolcott-Rallison syndrome -2 Gopi et al 2021 [16] 189 children with permanent NDM the investigation of a large number of genes at the same time, making it rapid and economical. However, when a mutation is detected in a gene through this method, we validate for just that particular mutation using Sanger method as this serves as a gold standard.…”

Section: Chennaimentioning

confidence: 99%

See 1 more Smart Citation

Genetics for the pediatric endocrinologists – 1

Radha

Mohan

Kumar

2022

JPED

View full text Add to dashboard Cite

The advancement in genetic laboratory technology has helped immensely in the diagnosis of many genetic disorders which could not hitherto be diagnosed. Monogenic diabetes among children and adolescents is not uncommon and needs a high index of clinical suspicion to diagnose. With the availability of genetic diagnostic laboratories with the latest technology, more and more patients should benefit from early diagnosis, specific targeted treatment, and better outcomes. The pediatricians and pediatric endocrinologists managing children with diabetes need to clinically suspect and advise appropriate genetic tests to confirm the diagnosis of monogenic diabetes. Neonatal diabetes mellitus is one of the most rewarding diagnoses, if we pick up a specific genetic abnormality that could respond to sulfonylurea. The child with KCNJ11 or ABCC8 gene mutation responding to sulfonylurea could escape from the life-long insulin injections and complications of diabetes. It is equally important to identify other forms of monogenic diabetes as the specific diagnosis can have implications in the treatment, genetic counseling, and identifying other family members harboring the same gene mutation.

show abstract

A heterozygous mutation at promoter region of insulin gene (INS) accounts for early-onset diabetes: A case report and review of the literature

Gong

Han

2023

Int J Diabetes Dev Ctries

View full text Add to dashboard Cite

Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population

Cited by 6 publications

References 20 publications

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease

Genetics for the pediatric endocrinologists – 1

A heterozygous mutation at promoter region of insulin gene (INS) accounts for early-onset diabetes: A case report and review of the literature

Contact Info

Product

Resources

About