Over 90% of Leber&amp... more Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.
Epithelioid sarcoma (ES) comprises two subtypes, distal and proximal. Initially, the distinction ... more Epithelioid sarcoma (ES) comprises two subtypes, distal and proximal. Initially, the distinction between these variants was based on tumor location, but subsequent research highlighted numerous functional differences between them. Proximal ES is distinguished by the molecular deletion of INI1, while classic ES is characterized by retained dysfunctional INI1 expression. Classic ES features elevated expression of GLI3, FYN, and CXCL12, along with overactive Notch/Hedgehog pathways and class 1 human leukocyte antigens (HLA). In contrast, proximal ES demonstrates MYC overexpression and upregulation of genes associated with the cell cycle, chromatin metabolism, and protein synthesis. The differences in clinical presentation underscore the necessity for tailored treatment approaches for each ES subtype. New therapeutic strategies are crucial, especially for the aggressive proximal variant. Tazemetostat, an oral selective inhibitor of the histone methyltransferase enhancer of zeste homolog 2 (EZH2), has recently gained FDA approval as a first-line treatment for ES patients.
Diseases affecting mitochondrial function are an increasingly popular area of research (Wallace, ... more Diseases affecting mitochondrial function are an increasingly popular area of research (Wallace, 1994). Many of them are due to mutations in nuclear DNA, and few of the responsible genes have been mapped. In contrast, in baker’s yeast Saccharomyces cerevisiae hundreds of nuclear genes are known which control mitochondrial function. We have been working on such a yeast gene, SUV3 encoding a DEAD box RNA helicase whose product is essential for maintenance of functional mitochondria (Stepien et al., 1992). A partial cDNA clone of the human homologue of SUV3 was described by Adams et al. (1995) and we have used this clone to map the position of the human homologue called SUPV3L1. Materials and methods
The human mitochondrial genome is a small 16.5 kb circular double-stranded DNA molecule containin... more The human mitochondrial genome is a small 16.5 kb circular double-stranded DNA molecule containing 37 genes. Mutations in this DNA can lead to various diseases, and the mitochondrial DNA (mtDNA) genome which is maternally inherited has been very often used in studies on human evolution. Mitochondria of all humans appear to originate from one woman who lived in Africa about 180000 years ago. Various parts of the mtDNA may not evolve at the same rate, and the different mitochondrial DNA haplogroups may not be totally functionally equivalent, raising questions as to the involvement of mitochondria in various human diseases and the process of aging.
Over 90% of Leber&amp... more Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.
Epithelioid sarcoma (ES) comprises two subtypes, distal and proximal. Initially, the distinction ... more Epithelioid sarcoma (ES) comprises two subtypes, distal and proximal. Initially, the distinction between these variants was based on tumor location, but subsequent research highlighted numerous functional differences between them. Proximal ES is distinguished by the molecular deletion of INI1, while classic ES is characterized by retained dysfunctional INI1 expression. Classic ES features elevated expression of GLI3, FYN, and CXCL12, along with overactive Notch/Hedgehog pathways and class 1 human leukocyte antigens (HLA). In contrast, proximal ES demonstrates MYC overexpression and upregulation of genes associated with the cell cycle, chromatin metabolism, and protein synthesis. The differences in clinical presentation underscore the necessity for tailored treatment approaches for each ES subtype. New therapeutic strategies are crucial, especially for the aggressive proximal variant. Tazemetostat, an oral selective inhibitor of the histone methyltransferase enhancer of zeste homolog 2 (EZH2), has recently gained FDA approval as a first-line treatment for ES patients.
Diseases affecting mitochondrial function are an increasingly popular area of research (Wallace, ... more Diseases affecting mitochondrial function are an increasingly popular area of research (Wallace, 1994). Many of them are due to mutations in nuclear DNA, and few of the responsible genes have been mapped. In contrast, in baker’s yeast Saccharomyces cerevisiae hundreds of nuclear genes are known which control mitochondrial function. We have been working on such a yeast gene, SUV3 encoding a DEAD box RNA helicase whose product is essential for maintenance of functional mitochondria (Stepien et al., 1992). A partial cDNA clone of the human homologue of SUV3 was described by Adams et al. (1995) and we have used this clone to map the position of the human homologue called SUPV3L1. Materials and methods
The human mitochondrial genome is a small 16.5 kb circular double-stranded DNA molecule containin... more The human mitochondrial genome is a small 16.5 kb circular double-stranded DNA molecule containing 37 genes. Mutations in this DNA can lead to various diseases, and the mitochondrial DNA (mtDNA) genome which is maternally inherited has been very often used in studies on human evolution. Mitochondria of all humans appear to originate from one woman who lived in Africa about 180000 years ago. Various parts of the mtDNA may not evolve at the same rate, and the different mitochondrial DNA haplogroups may not be totally functionally equivalent, raising questions as to the involvement of mitochondria in various human diseases and the process of aging.
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