What are the effects of mutations in the INS gene?
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Mutations in the INS gene can have various effects on insulin biosynthesis and function. Dominant mutations typically disrupt the secondary structure of the insulin protein, leading to misfolded proteins, endoplasmic reticulum (ER) stress, and beta-cell destruction . Recessive mutations, on the other hand, result in reduced insulin biosynthesis or loss-of-function mutations, leading to the absence of functional insulin protein . These mutations can cause neonatal diabetes mellitus (NDM) and permanent neonatal diabetes mellitus (PNDM), affecting pancreatic beta cell mass and/or function . Some mutations in the INS gene can impair the translocation of preproinsulin (PPI) across the ER membrane, leading to beta-cell failure and diabetes . The clinical presentation and severity of diabetes can vary depending on the specific INS gene mutation .
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| The paper identifies a novel INS mutation (PPI-R46X) that causes inefficient translocation of preproinsulin into the endoplasmic reticulum (ER), leading to early-onset diabetes. The mutation affects the proinsulin domain and impairs PPI translocation efficiency. | |
| The effects of mutations in the INS gene can lead to neonatal diabetes mellitus by impairing the synthesis of insulin in pancreatic beta cells. | |
1 Citations | The paper states that mutations in the INS gene affect the various stages of insulin biosynthesis in the beta cells of the pancreas. |
14 Citations | Mutations in the INS gene can lead to misfolded insulin protein, resulting in ER stress and destruction of beta cells. They can also cause reduced insulin biosynthesis or loss-of-function mutations, resulting in no functional protein being produced. |
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