Diabetes, particularly type 2, has been a public health concern for years now.

According to the International Diabetes Federation (IDF), there were around 463 million adults with diabetes worldwide in 2019, and it is predicted to reach 700 million by 2045. Diabetes is classified into two types, type 1 diabetes and type 2 diabetes. Type 1 diabetes is an autoimmune disease and accounts for about 5-10% of all diabetes cases. Type 2 diabetes is more common and accounts for about 90-95% of all diabetes cases.

However, besides these two types of diabetes, there are other underlying genetic mutations that cause diabetes. In this article, we will discuss a rare form of hereditary diabetes.

What is hereditary diabetes?

Hereditary diabetes, as the name suggests, is a type of diabetes that is caused by genetic mutations that are inherited from one or both parents. In most cases, diabetes is caused by a combination of lifestyle factors and genetic factors.

However, in rare cases, diabetes can be caused solely by genetic mutations. These mutations affect the production and function of insulin, which can lead to high blood sugar levels and other complications.

Types of hereditary diabetes

There are several types of hereditary diabetes, some of which are:.

Monogenic diabetes

Monogenic diabetes, also known as neonatal diabetes, is a rare form of diabetes that is caused by a mutation in a single gene. This type of diabetes usually occurs before six months of age and is treated with insulin injections.

Maturity-onset diabetes of the young (MODY)

MODY is another rare form of diabetes that is caused by a mutation in one of several genes. MODY usually develops in adolescence or early adulthood and is treated with oral medications or insulin injections.

Wolfram Syndrome

Wolfram Syndrome, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) Syndrome, is a rare genetic disorder that affects multiple systems in the body, including the endocrine system.

Wolfram Syndrome is caused by mutations in the WFS1 or CISD2 genes, which affect the production and function of insulin and cause diabetes.

The discovery of an uncommon type of hereditary diabetes

In a recent study published in the New England Journal of Medicine, researchers identified a new type of hereditary diabetes that is caused by a mutation in the gene SLC30A8.

Related Article New Hereditary Diabetes Found

The SLC30A8 gene is responsible for encoding a protein called zinc transporter 8 (ZnT8), which plays a critical role in insulin secretion. The mutation identified in this gene leads to a deficiency in ZnT8, causing an impairment in insulin secretion and resulting in high blood sugar levels.

The study

The study was conducted by a team of researchers from the University of Exeter and the Royal Devon and Exeter NHS Foundation Trust in the UK.

The researchers analyzed the genetic data of over 150,000 participants from different countries, including the UK, the US, and Sweden, to identify the genetic mutation in the SLC30A8 gene that causes diabetes.

Key findings of the study

The study identified a rare genetic mutation in the SLC30A8 gene that leads to a deficiency in ZnT8 and impairs insulin secretion, causing diabetes.

The researchers estimated that this mutation affects about 1 in every 3000 people, making it a rare form of hereditary diabetes. However, the researchers also noted that the mutation was more prevalent in some populations, such as the Ashkenazi Jewish population, where it affects about 1 in every 1300 people.

The implications of the study

The discovery of this new type of hereditary diabetes has important implications for diabetes research and treatment.

Firstly, it highlights the role of genetic mutations in the development of diabetes, which could lead to the development of new targeted therapies for the disease. Secondly, it underscores the importance of genetic screening and counseling for people with a family history of diabetes or other genetic disorders.

Finally, it has the potential to improve diabetes diagnosis and management, particularly in cases where diabetes is difficult to control with standard treatments.

Conclusion

The discovery of a rare type of hereditary diabetes caused by a mutation in the SLC30A8 gene is a significant finding that has important implications for diabetes research and treatment.

It highlights the role of genetic mutations in the development of diabetes and underscores the importance of genetic screening and counseling in the management of the disease. Although this type of hereditary diabetes is rare, its discovery could pave the way for new targeted therapies for the disease and improve diabetes diagnosis and management.