Baruffini, Enrico

CECCATELLI BERTI, Camilla

Dallabona, Cristina

Degiorgi, Andrea

DI PUNZIO, Giulia

Gilberti, Micol

The term “Mitochondrial disease” refers to a broad range of disorders, each of which 
involves a mitochondrial dysfunction, in which the underlying genetic defect is often 
unknown. Whereas the huge increase of alleged mutations identified in single patients, for 
example by new generation sequencing techniques, a major challenge is to determine if 
these are the specific cause of the pathology, i.e. it is necessary to validate them. 
To prove unequivocally the causality, that must be evaluated biologically through
functional analyses, the yeast Saccharomyces cerevisiae is extensively used.
Here we present four different yeast models created to validate and get insight into the
effect of mutations in the human genes ANT1, YARS2, DNM1L and LYRM7, involved in 
different mitochondrial processes, taking advantage of the presence the yeast orthologous 
genes. ANT1 (AAC2 in yeast) encodes for an isoform of the mitochondrial ADP/ATP 
carrier, exchanging cytosolic ADP for mitochondrially synthesized ATP. YARS2 (MSY1 in 
yeast), coding the mitochondrial tyrosyl-tRNA synthetase, is necessary for a correct 
mitochondrial protein synthesis. DNM1L (DNM1 in yeast) is the most important mediator 
of mitochondrial fission, with a role also in peroxisome division. LYRM7 (MZM1 in yeast), 
encoding mitochondrial LYR motif-containing protein 7, is required for the assembly of the 
cytochrome bc1 complex. It acts as a chaperone for Rip1 and facilitates its insertion into the 
complex at a late stag

Camilla Ceccatelli Berti

Micol Gilberti

Andrea Degiorgi

Giulia Di Punzio

Enrico Baruffini

Cristina Dallabona

Archivio istituzionale della Ricerca -  Università degli Studi di Parma

The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7.

The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7.

Abstract

Similar works

Full text

Available Versions

Archivio istituzionale della Ricerca - Università degli Studi di Parma