Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes

Sen, Ritoprova; Jetto, Cuckoo Teresa; Manjithaya, Ravi

doi:10.1007/s12038-024-00428-9

Cited by 2 publications

(3 citation statements)

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“…The existing treatment mainly focuses on providing symptomatic management, which involves the administration of vitamins, respiratory substrates, coenzymes, etc. ( 1 , 22 ). Increasing the frequency of feeding or considering continuous feeding, along with the administration of raw cornstarch, can be potential strategies to enhance hypoglycemia management ( 23 ).…”

Section: Discussionmentioning

confidence: 99%

“…The mitochondrial DNA depletion syndrome (MDS) comprises a group of rare autosomal recessive genetic diseases that cause energy disorders in organs due to the reduction of mitochondrial DNA caused by variants in nuclear genes ( 1 ). The manifestation of MDS encompasses a wide range of tissues and organs, with early-onset MDS primarily characterized by predominant involvement in the brain, muscle disorders, and liver.…”

Section: Introductionmentioning

confidence: 99%

“…The MDS causes severe organs disorders, with a poor prognosis in the majority of affected individuals. The therapeutic interventions available for MDS are currently limited, primarily focusing on providing symptomatic management, such as nutritional modulation and supplementation of cofactors, which may be used to slow down disease progression ( 1 , 4 – 6 ). LT may be considered for certain patients, although its effectiveness remains a subject of controversy.…”

Section: Introductionmentioning

confidence: 99%

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Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: a case report and literature review

Wei,

Chen,

Huang

et al. 2024

Front. Surg.

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ObjectiveTo study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant.Case presentationA boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to homozygous variant c.293C>T in the MPV17 gene. Subsequently, he underwent LT from a cadaveric donor. At follow-up after 15 months, his liver function was found to be normal, without any symptoms. Additionally, a literature review was performed that included MDS patients with the MPV17 variant who underwent LT. The results demonstrated that the survival rates for MDS patients who underwent LT were 69.5%, 38.6%, 38.6%, and 38.6% at 1-year, 5-year, 10-year, and 20-year intervals, respectively. Sub-group analyses revealed the survival rate of MDS patients with isolated liver disease (83.33%, 5/6) was higher than that of hepatocerebral MDS patients (44.44%, 8/18). Fifteen variants were identified in the MPV17 gene, and patients with the c.293C>T (p.P98l) variant exhibited the highest survival rate.ConclusionHepatocerebral MDS patients without neurological symptoms may benefit from LT.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%