Final Report Summary - MDS (The Molecular Basis of Mitochondrial Disease: Elucidating the Function of the Mitochondrial Inner Membrane Protein MPV17)
Mitochondria generate energy for the cell, and to do so requires the protein products of a small piece
of DNA (mitochondrial DNA, or mtDNA), which it harbours, as well as many proteins from the nucleus.
One nuclear gene called MPV17 is needed to help maintain mtDNA, we know this because Dr
Spinazzola discovered that mutations in MPV17 are responsible for a human disease which results in
mitochondrial DNA depletion syndrome (MDS). The primary research aim of the fellowship was to
understand the function of MPV17, thereby aiding the design of rational therapies for MPV17
deficiency and potentially also other forms of MDS. At the inception of the project, neither the function
of MPV17, nor the mechanism leading to mtDNA depletion was known.
of DNA (mitochondrial DNA, or mtDNA), which it harbours, as well as many proteins from the nucleus.
One nuclear gene called MPV17 is needed to help maintain mtDNA, we know this because Dr
Spinazzola discovered that mutations in MPV17 are responsible for a human disease which results in
mitochondrial DNA depletion syndrome (MDS). The primary research aim of the fellowship was to
understand the function of MPV17, thereby aiding the design of rational therapies for MPV17
deficiency and potentially also other forms of MDS. At the inception of the project, neither the function
of MPV17, nor the mechanism leading to mtDNA depletion was known.
