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Mitochondrial diseases include a wide range of genetic disorders with different clinical characteristics and patient prognostics.
these diseases can be exudable or caused by genetically pathogenic mutations in mitochondrial DNA (mtDNA) or mitochondrial function and maintenance of about 1,200 nuclear-encoded genes.
mtDNA is mediated by mitochondrial RNA polymerase (POLRMT) and mitochondrial transcription factors A (TFAM) and B2 (TFB2M).
Although more than 300 pathogenic variants have been found in mitochondrial DNA (mtDNA) polymerases γ, no mitochondrial esotypes are currently associated with POLLMT, the RNA polymerase responsible for mitochondrial genome transcription.
recently, researchers characterted the clinical and molecular properties of pollRMT mutations in eight individuals from seven unrelated families.
patients showed overall stunting, low muscle dystagina, short stature and language/intellectual disability in childhood;
researchers sequenced all subjects in large-scale parallel sequences to determine the recessive and explicit variation of the POLLMT gene.
patients with fibroblasts with mitochondrial mRNA synthesis defects, but no mtDNA missing or abnormal number of copies.
characteristics of recombinant POLLMT mutants reveal variable but harmful effects on mitochondrial transcription.
the study of in vivo and in vitro function of POLLMT variants has jointly established mitochondrial transcription defects as an important disease mechanism.
