Monogenic diabetes: the impact of making the right diagnosis

Harris, Anastasia; Letourneau, Lisa R.; Greeley, Siri Atma W.

doi:10.1097/mop.0000000000000643

Cited by 16 publications

(9 citation statements)

References 77 publications

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“…There is still no consensus on which molecular technique is more reliable for diagnosing monogenic diseases. However, the RainDance PCR enrichment technology and the SureSelect exon capture method have shown high sensitivity and low cost as a screening method, directing which patients must be screened for more complete genetic mapping, such as Dideoxy sequencing (Sanger), which is defined as the gold standard (HARRIS A. et al, 2018).…”

Section: Precision Medicine and Diagnosis Of Single Gene Diabetesmentioning

confidence: 99%

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Souza,

Bernabé,

Vieira

et al. 2023

JHS

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Objective: Address recent advances in precision medicine in the diagnosis and treatment of monogenic diabetes, including MODY, neonatal diabetes and rare forms. Method: The report was prepared between April and May 2023, following the PVO strategy. A search was performed in the PubMed database, using descriptors such as "Monogenic Diabetes", "MODY", "Diabetes Maturity Onset of the Young", "Neonatal Diabetes" and "Precision Medicine". Sixteen articles selected after inclusion and exclusion criteria were analyzed, of the 88 found. Results: Precision medicine is revolutionizing the treatment of single-gene diabetes, identifying specific mutations and providing more effective therapies. Lifestyle and dietary modifications are recommended for HNF1A-MODY, and the use of sulfonylureas may be considered. In the case of NDM, it is possible to transition from insulin to sulfonylureas. In insulin-resistant diabetes, the use of insulin-sensitizing agents is preferred. Early diagnosis and insulin treatment are key for LADA. Precision medicine improves the quality of life for patients with monogenic diabetes. Final considerations: Precision medicine has brought significant advances in the diagnosis and treatment of monogenic diabetes, providing more effective therapies and better quality of life for affected patients. These advances represent an important step towards personalized medicine for singlegene diabetes.

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Section: Precision Medicine and Diagnosis Of Single Gene Diabetesmentioning

confidence: 99%

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Souza,

Bernabé,

Vieira

et al. 2023

JHS

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“… 49 MD is caused by a single gene mutation that occurs in roughly 2% of patients who are diagnosed with diabetes mellitus (reviewed by Harris et al. 50 ). Patient iPSCs from MODY, NeoD, and WS backgrounds have allowed for human MD modeling.…”

Section: Disease Modeling With Ipscs From Patients With Diabetesmentioning

confidence: 99%

Applications of iPSC-derived beta cells from patients with diabetes

Maxwell

Millman

2021

Cell Reports Medicine

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Summary Improved stem cell-derived pancreatic islet (SC-islet) differentiation protocols robustly generate insulin-secreting β cells from patient induced pluripotent stem cells (iPSCs). These advances are enabling in vitro disease modeling studies and the development of an autologous diabetes cell replacement therapy. SC-islet technology elucidates key features of human pancreas development and diabetes disease progression through the generation of pancreatic progenitors, endocrine progenitors, and β cells derived from diabetic and nondiabetic iPSCs. Combining disease modeling with gene editing and next-generation sequencing reveals the impact of diabetes-causing mutations and diabetic phenotypes on multiple islet cell types. In addition, the supply of SC-islets, containing β and other islet cell types, is unlimited, presenting an opportunity for personalized medicine and overcoming several disadvantages posed by donor islets. This review highlights relevant studies involving iPSC-β cells and progenitors, encompassing new conclusions involving cells from patients with diabetes and the therapeutic potential of iPSC-β cells.

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“…Initially, sulfonylureas are effective, but after few years insulin is needed for glucose control. Since subtypes of monogenic diabetes vary in their treatment recommendation and prognosis, a molecular diagnosis is an important component of clinical management (41). Although monogenic forms of diabetes are rare it seems that genetic screening is cost-effective in individuals who have atypical diabetes and multiple family members with diabetes with atypical course (33).…”

Section: Gestational Diabetes Mellitusmentioning

confidence: 99%

A new classification of diabetes mellitus – current approaches and challenges

Szatko

Mordarska

Pokrzywa

et al. 2020

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Diabetes is a chronic metabolic disorder with a rapidly growing incidence worldwide. It is currently classified into two main types, type 1 and type 2 diabetes, based on status of the autoantibodies directed at the β-cell. However, it does not reflect the complexity of diabetes and the broad spectrum of the clinical manifestations, particularly in type 2. In this review we present the evolution of the World Health Organization (WHO) classification of diabetes, with a focus on newly introduced categories – hybrid forms of diabetes and unclassified diabetes. We compare the WHO diabetes subgroups with the American Diabetes Association (ADA) approach to this issue. Since the current classification systems do not reflect all the factors leading to hyperglycaemia in type 2 diabetes, we present novel approach to phenotyping diabetes in adults based on six variables (age at diagnosis, body mass index [BMI], C-peptide based homeostasis model assessments of β-cell function and insulin resistance, haemoglobin A1c and glutamic acid decarboxylase antibodies [GADA] status) which allowed to distinguish five replicable groups of patients in Swedish cohort with different clinical presentations. The understanding heterogeneity of diabetes helps to classify the patients more adequately, but none of classifications is optimal. Including combination of genetic, metabolomic and clinical factors into classification schemas will pave the way towards personalized medicine in diabetes and will presumably result in more effective treatment of the patients.

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Monogenic diabetes: the impact of making the right diagnosis

Cited by 16 publications

References 77 publications

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Applications of iPSC-derived beta cells from patients with diabetes

A new classification of diabetes mellitus – current approaches and challenges

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Monogenic diabetes: the impact of making the right diagnosis

Cited by 16 publications

References 77 publications

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Precision Medicine and Monogenic Diabetes: Advances, Challenges, and Future Perspectives

Applications of iPSC-derived beta cells from patients with diabetes

A new classification of diabetes mellitus – current approaches and challenges

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Product

Resources

About

A new classification of diabetes mellitus – current approaches and challenges