Case report: Ketogenic diet beneficial in infant with mitochondrial disease
A preterm infant diagnosed with MTDPS13, a mitochondrial disease similar to TK2d, was found to tolerate a ketogenic diet well.
News
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Study links shorter telomeres to mitochondrial DNA depletion disorders
Patients with mitochondrial DNA depletion disorders such as TK2d had significantly shorter telomeres, especially in granulocytes.
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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.
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Mitochondrial DNA release may trigger inflammation in TK2d
In patients with primary mitochondrial diseases such as TK2d, mitochondrial DNA may be responsible for activating immune responses.
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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.
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Case series highlights diagnostic challenges of mitochondrial diseases
A recent study describes four young patients with mitochondrial DNA maintenance defects who did not receive diagnoses until young adulthood.
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First treatment for TK2d may soon be approved in Europe
The European Medicines Agency (EMA) has recommended approving Kygevvi (doxecitine and doxribtimine) for use in the European Union.
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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.
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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.
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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.