acronym for MiTochondrial DNA DePletion Syndrome

A group of diseases caused by a nuclear DNA mutation resulting in mitochondrial DNA depletion and progressive mitochondrial cytopathy of variable severity. Most of these mutations are sporadic or autosomal recessive.

From a genetic point of view, 20 types have been identified::

-        MTDPS1 [MIM 603 041], mutation of the TYMP gene (22q13.33), leading to MNGIE (mitochondrial neurogastro-encephalopathy) syndrome (see this term)

-        MTDPS2 [MIM 609 560], mutation of the TK2 gene (16q21)

-        MTDPS3 [MIM 251 880], mutation of the DGUOK gene (2p13.1) resulting in mitochondrial deoxyguanosine kinase deficiency (see this term)

-        MTDPS4A [MIM 203 700], mutation of the POLG gene (15q26.1) leading to Alpers syndrome

-        MTDPS4B [MIM 613 662], mutation of the POLG gene (15q26.1) leading to MNGIE syndrome

-        MTDPS5 [MIM 612 073], mutation of the SUCLA2 gene (13p14.2)

-        MTDPS6 [MIM 256 810], mutation of the MVP17 gene (2p23.3), which leads to Navajo neurohepatopathy (see this term)

-        MTDPS7 [MIM 271 245], mutation of the C10ORF2 gene (10q24.31) which leads to a form of spinocerebellar ataxia

-        MTDPS8A [MIM 612 075], mutation of the RRM2B  gene (8q22.3) leading to encephalomyopathy with renal tubulopathy

-        MTDPS8B [MIM 612 075], mutation of the RRM2B  gene (8q22.3) leading to MNGIE syndrome

-        MTDPS9 [MIM 245 400], mutation of the SUCLG1 gene (2p11.2), resulting in methylmalonic aciduria

-        MTDPS10 [MIM 212 350], mutation of the AGK gene (7q34) resulting in Senger syndrome (cataract + cardiomyopathy)

-        MTDPS11 [MIM 615 084], mutation of the MGME1 gene (20p11.23)

-        MTDPS12A [MIM 617 184], mutation of the SLC25A4 gene (4q35.1) autosomal dominant transmission

-        MTDPS12B [MIM 615 084], mutation of the SLC25A4 gene (4q35.1) autosomal recessive transmission

-        MTDPS13 [MIM 615 471], mutation of the FBX24 gene (6q16.1)

-        MTDPS14 [MIM 616 896], mutation in the OPA1 gene (3q29)

-        MTDPS15 [MIM 617 156], mutation of the TFAM gene (10q21.1) which presents either as neonatal cholestasis with intrauterine growth retardation and rapid death from liver failure, or as intellectual retardation with hearing impairment, convulsions and primary ovarian failure. 

-        MTDPS16 [MIM 618 528], mutation of the POLG2 gene (17q23.3)

-        MTDPS17 [MIM 618 567], mutation of the MRM2 gene (7p22.3)

-        MTDPS18 [MIM 618 811], mutation of the SLC25A21 gene (14q13.3)

-        MTDPS19 [MIM 618 972], mutation of the SLC25A10 gene (17q25.3)

-        MTDPS20 [MIM 619 780], mutation of the LIG3 gene (17q12) leading to MNGIE syndrome

Anesthetic implications:

management of a mitochondrial cytopathy

see mitochondrial cytopathies

References :

-        Zhao J, Chen L, Wang N, Xie X-B. Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome. Orphanet Journal of Rare Diseases 2024 ; 19:486

Updated: January 2025