Publications by authors named "T V Krylova"
Background: The gene encodes ATP-dependent RNA helicase SUPV3L1, which is a part of the mitochondrial degradosome complex or SUV3. SUPV3L1 unwinds secondary structures of mitochondrial RNA (mtRNA) and facilitates the degradation of mtRNA molecules. A nonsense homozygous variant in the gene was recently associated with mitochondrial disease.
View Article and Find Full Text PDF(1) : The aim was to evaluate the effectiveness of the probiotic containing in the treatment of small intestinal bacterial overgrowth (SIBO) in patients with decompensated cirrhosis. (2) : This was a blinded, randomized, placebo-controlled study. (3) : After 3 months of treatment, SIBO was absent in 80.
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- Most patients with Leber Hereditary Optic Neuropathy (LHON) have one of three common mutations in mitochondrial genes: m.11778G>A, m.3460G>A, or m.14484T>C.
- There are 16 rarer mutations listed in the Mitomap database, and many potential mutations remain unverified due to a lack of research.
- Advanced genetic diagnostic technologies are crucial for confirming LHON and help differentiate it from other types of optic neuropathies.
Article Synopsis
- Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON) are optic nerve diseases caused by genetic mutations, impacting visual functions differently based on the specific variant.
- In a study of 84 patients, those with certain genetic mutations (c.152A>G and m.14484T>C) showed better long-term visual acuity outcomes compared to those with other mutations (m.11778G>A and m.3460G>A).
- The research also found that early visual acuity loss predicted worse recovery and that color vision improved faster than visual acuity across all mutations.
Article Synopsis
- - Pediatric acute liver failure (PALF) is a serious condition with up to 50% of cases remaining unexplained, hindering effective treatment options like liver transplantation.
- - In a study involving 260 children from 19 countries, whole-exome sequencing (WES) identified genetic causes in 37% of indeterminate PALF cases, with a particularly high diagnostic rate in infants and those with recurrent liver failure.
- - The research uncovered 36 distinct genes associated with PALF, highlighting mitochondrial diseases as the most common cause and underscoring the need for advanced genetic testing in diagnosing and treating this condition.