Megan Garlapow, PhD

All articles by Megan Garlapow, PhD

• Targeted gene therapy reverses cardiomyopathy in mitochondrial disease

  A small boost in a missing mitochondrial gene markedly improved heart function in a severe genetic disease related to TK2d.

• Study reveals ​​how Twinkle imbalance may drive mitochondrial disease

  Twinkle, a protein essential for mitochondrial DNA copying, also works with RNA, revealing new ways it may influence TK2d.

• New research examines Twinkle disease and its link to TK2 deficiency

  Twinkle-related disorders and thymidine kinase 2 deficiency (TK2d) affect the same mitochondrial DNA pathway.

• Study clarifies how late-onset TK2 deficiency progresses over time

  Late-onset thymidine kinase 2 deficiency (TK2d) worsens over time, especially muscle strength and breathing.

• Genetic reanalysis links MGME1 variant to TK2-related mitochondrial disease

  The MGME1 variant affects the same mitochondrial DNA pathway as thymidine kinase 2 deficiency, possibly acting within the same spectrum.

• Tk2 loss drives mitochondrial failure in frequent epilepsy seizures

  Tk2 deficiency was closely linked to higher seizure frequency across multiple epilepsy types and brain regions.

• Review: Experimental therapy significantly lowers death risk in TK2d

  Treatment with pyrimidine nucleos(t)ides was associated with a dramatic reduction in the risk of death compared with no treatment in TK2d.