Medical Knowledge Cockpit mitochondrial dna depletion syndrome, (mngie type)

TYMP

• Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity

POLG

• In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
• Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
• ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia

RRM2B

• A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage
• A ribonucleotide reductase gene is a transcriptional target of p53 and p73
• Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

POLG

Somatic tumors

CRC

Tumor types germline

Cancer Syndrom

Translocation partner

Name

DNA polymerase gamma, catalytic subunit

Chromosome banding

15q26.1

Cancer molecular gen.

Mutation type

N, O

Other syndrome disease

mitochondrial DNA depletion syndrome