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PERSPECTIVES - Coggle Diagram
PERSPECTIVES
DEVELOPMENT OF NGS
acess to mtDNA sequencing info
identification mutations
helper
synergetic
co-occurence of variants
mitochondrial haplogroups
INFLUENCE OF MITOCHONDRIAL HAPLOGROUPS
mtDNA clusters of genetic △
accumulated througout human
evolution (MATERNALY)
PLAYS A ROLE
MODULATING THE PENETRANCE
OF MITOCHONDRIAL DISEASE
AGE - RELATED DISORDERS
HAPLOGROUPS defined by acient genetic △
specific branches mtDNA phylogenetic tree
INFLUENCE OF THE NUCLERAR GENOME
MITOCHONDRIA DRIVEN BY
2 GENOMES (nuclear variants may
modulate phenotypic expression)
YARS2 gene encodes mitochondrial
tyrosyl-tRNA synthetase
CO-OCCURRENCE OF mtDNA VARIANTS
well-studied mitochondrial diseases like LHON or MELAS
SHOWN TO BE ASSOCIATED WITH
CONFIRMED mtDNA VARIANTS
BY ANALYSING THE ENTIRE
MITOCHONDRIAL GENOME CAN REVEAL
CO-OCCURRING VARIANTS