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Japanese–European scientists detect novel genetic mitochondrial disorder

Japanese–European scientists detect novel genetic mitochondrial disorder
The list of known genetic mitochondrial disorders is ever-growing, and ongoing research continues to identify new disorders in this category. In an article recently published in Brain, a Japanese-European team of scientists, including researchers from Fujita Health University, describe mutations in the LIG3 gene, which plays a crucial role in mitochondrial DNA replication. These mutations cause a previously unknown syndrome characterized by gut dysmotility, leukoencephalopathy, and neuromuscular abnormalities.
DNA ligase proteins, which facilitate the formation of bonds between separate strands of DNA, play critical roles in the replication and maintenance of DNA. The human genome encodes three different DNA ligase proteins, but only one of those proteins DNA ligase III (LIG3) is expressed in mitochondria. LIG3 is therefore crucial for mitochondrial health, and inactivation of the homologous protein ....

Elena Bonora , Mariko Taniguchi Ikeda , Makiko Tsutsumi , Emily Henderson , Fujita Health University , University Of Ferrara , University Of Bologna , Fujita Health University Hospital , Professor Elena Bonora , Professor Roberto De Giorgio , Dna Replication , N Vitro , எமிலி ஹென்டர்சன் , புஜிதா ஆரோக்கியம் பல்கலைக்கழகம் , பல்கலைக்கழகம் ஆஃப் ஃபெராரா , பல்கலைக்கழகம் ஆஃப் போலோக்னா , புஜிதா ஆரோக்கியம் பல்கலைக்கழகம் மருத்துவமனை ,

Japanese-European research team discovers novel genetic mitochondrial disorder

Japanese-European research team discovers novel genetic mitochondrial disorder
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

Elena Bonora , Mariko Taniguchi Ikeda , Makiko Tsutsumi , World University Rankings , Fujita Health University , Fujita Health University Hospital , University Of Ferrara , University Impact Rankings , Kobe University Graduate School Of Medicine , Department Of Pediatrics , University Of Bologna , Professor Elena Bonora , Professor Roberto De Giorgio , Health University , Higher Education , World University , Impact Rankings , Fujita Health , Clinical Genetics , Comprehensive Medical Science , Kobe University Graduate School , உலகம் பல்கலைக்கழகம் தரவரிசை , புஜிதா ஆரோக்கியம் பல்கலைக்கழகம் , புஜிதா ஆரோக்கியம் பல்கலைக்கழகம் மருத்துவமனை , பல்கலைக்கழகம் ஆஃப் ஃபெராரா , பல்கலைக்கழகம் தாக்கம் தரவரிசை ,