Mitochondrial DNA Maintenance Defects Overview
Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, Fernando Scaglia, Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya, Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, Fernando Scaglia, Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya
Excerpt
This overview focuses on the clinical features and molecular genetics of mitochondrial DNA (mtDNA) maintenance defects.
The goals of this overview are the following.
Goal 1: Describe the pathomechanism of mtDNA maintenance defects.
Goal 2: Review the genetic causes of mtDNA maintenance defects.
Goal 3: Describe the clinical characteristics of mtDNA maintenance defects.
Goal 4: Provide clinical and laboratory evaluation strategies to facilitate the diagnosis of a mtDNA maintenance defect and to establish a genetic cause in a proband (when possible).
Goal 5: Inform genetic counseling for mtDNA maintenance defects.
Goal 6: Summarize current management recommendations for individuals with mtDNA maintenance defects.
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References
- El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017;1863:1539–55.
- Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48:126–33.
Source: PubMed