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Type II Diabetes I: Introduction

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...

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Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...

Diabetes Mellitus: Type 2 and Gestational

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Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...

Diabetes Mellitus: Overview and Type I Subtype

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Type I Diabetes I: Introduction

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Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...

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Multiomics Mendelian Randomization Identifies Lactylation-Related Molecular Traits in Type 1 Diabetes.

Yu Ding¹, Shiyang Gao¹, Lingwen Ying¹

¹Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China, shsmu.edu.cn.

Journal of Diabetes Research

|July 3, 2026

Summary

Genetic analyses identified PDAP1, PNKD, and HMGB1 as key lactylation-related genes associated with type 1 diabetes (T1D) risk. These findings suggest lactylation pathways may play a role in T1D development.

Keywords:

Mendelian randomization genome-wide association study lactylation multiomics posttranslational protein modification quantitative trait loci type 1 diabetes

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Area of Science:

Genetics
Molecular Biology
Immunology

Background:

Lactylation, a posttranslational modification, influences metabolic and immune functions.
Altered lactate metabolism is linked to type 1 diabetes (T1D), but the genetic basis of lactylation in T1D is unclear.

Purpose of the Study:

To investigate the genetic associations between lactylation-related molecular traits and type 1 diabetes (T1D).
To identify specific genes and molecular mechanisms linking lactylation to T1D pathogenesis.

Main Methods:

Employed Summary-data-based Mendelian randomization (SMR) to integrate genetic data (mQTLs, eQTLs, pQTLs) for 353 lactylation genes with T1D GWAS data.
Utilized HEIDI and Bayesian colocalization for heterogeneity and shared signal assessment, with replication in FinnGen cohorts.
Performed mQTL-eQTL SMR, Steiger directionality, and GTEx tissue eQTL analyses for prioritized genes.

Main Results:

SMR analysis prioritized PDAP1, PNKD, and HMGB1 as candidate genes associated with T1D.
Specific methylation sites in PDAP1, PNKD, and HMGB1 showed significant associations with T1D risk.
Genetically predicted expression of PDAP1 and HMGB1 was inversely associated with T1D risk, while PNKD expression was positively associated.
Significant methylation-expression associations were found for PDAP1, PNKD, and HMGB1, with PNKD expression linked to increased T1D risk in blood and spleen.

Conclusions:

PDAP1, PNKD, and HMGB1 are identified as lactylation-related genes associated with T1D risk.
These findings propose a hypothesis for the involvement of lactylation pathways in type 1 diabetes development, warranting further investigation.