I128T

I128T is a rare genetic mutation that occurs in the human genome. It is characterized by the substitution of a single nucleotide in the DNA sequence, specifically a thymine (T) replacing an isoleucine (I) codon at position 128 in the gene. This mutation is typically found in the mitochondrial DNA (mtDNA) and can have significant implications for an individual's health and development.

The I128T mutation is associated with a variety of clinical conditions, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These conditions are characterized by a range of symptoms, such as muscle weakness, fatigue, seizures, and developmental delays. The severity of these symptoms can vary widely among individuals with the I128T mutation.

The I128T mutation is inherited in a maternal manner, meaning that it is passed down from the mother to her children. This is because mtDNA is primarily inherited from the mother, with only a small contribution from the father. As a result, the prevalence of the I128T mutation can vary significantly among different populations.

Research into the I128T mutation and its associated conditions is ongoing, with the goal of developing better diagnostic tools and therapeutic interventions. Understanding the genetic basis of these conditions can help in the development of personalized treatment plans and in the identification of individuals at risk for these disorders.