The Missing Signal: A New Chapter in Diabetes Research

 By: Keira Maxine C. Reyes | Harbinger

In recent years, health trends have become increasingly alarming, as a growing proportion of the population develops various diseases with neonatal cases rising at an unprecedented rate. Diabetes, one of the most common diseases affecting people across different age groups, is a chronic disease where blood sugar cannot be regulated. It causes the body to either produce little or no  insulin hormone (Type 1) or become unable to utilize the insulin it produces (Type 2), causing build-up of glucose in the bloodstream. It may result from an autoimmune disease, lifestyle factors, or genetics causes–as seen in cases of neonatal diabetes.

A screengrab from University of Exeter. (2026, January 14). Scientists uncover a hidden type of diabetes in newborns. ScienceDaily. Retrieved January 16, 2026 from www.sciencedaily.com/releases/2026/01/260114084125.htm

This medical condition has been found affecting babies in their early life stage. Neonatal diabetes is a rare disease caused by a single gene mutation, affecting the normal function of the insulin-producing cells in the body. In some cases, neonatal diabetes is also accompanied by neurological conditions such as epilepsy and microcephaly, a genetic disorder known as Microcephaly, Epilepsy, and Diabetes Syndrome (MEDS).

MEDS has two known etiological genes, IER3IP1 and YIPF5. These genes encode small endoplasmic reticulum‑associated proteins essential in helping brain cells and insulin-producing cells to handle stress and ensure that chemicals such as insulin go through the right pathway. However, a new study showed the identification of a mutation in the TMEM167A gene as another genetic cause of MEDS.

Through advanced DNA sequencing, the researchers identified missense variants in the TMEM167A gene. Stem cells were transformed into pancreatic beta cells and subjected to gene editing techniques to further analyze it. Experiments show that this gene is involved in protein trafficking,  helping ensure that proteins are transported to the right place. Mutations here can cause build-up of proinsulin that leads to apoptosis, thus reducing insulin secretion when blood sugar rises.

Mutations in the TMEM167A gene also affect neurodevelopment of babies as it is active in the neurogenic zones and plays a role in ER‑to‑Golgi trafficking of proteins needed for neuron growth, migration, and connectivity. Both the brain and pancreas rely on the same “traffic system” to move newly made proteins to where they are released or processed which is why microcephaly and epilepsy come along with neonatal diabetes.

Understanding how genetic mutations lead to certain diseases opens a broader perspective on the causes of diabetes. It reveals a more precise and specific target for further study which is the ER‑to‑Golgi trafficking pathway, an essential area in insulin production that when disrupted, can directly lead to diabetes. With this, new treatments could be developed not only for neonatal forms of diabetes but also for more common types, where similar cellular stresses may be contributing to disease progression.