Preventing Mitochondrial Disease Problem Based Learning scenario

Question 1

Red flags

History: Miscar……….. and early childhood deaths, severe neuro…………. disorder, progressive loss of men………… and movement abilities, and death

Imaging: Lesions in the ………….. and the loss of ………….. around nerves

DNA: severe and abundant mtDNA mutation (T8993G) in e………., e…………. and of…………

Clinical expertise: P…../embryo selection inappropriate (…………….. mtDNAs too severe and too abundant)

Recommendation: Mitochondrial …………….. (also know as …………………)

Answer 1

History: Miscarriages and early childhood deaths, severe neurological disorder, progressive loss of mental and movement abilities, and death

Imaging: Lesions in the brain and the loss of myelin around nerves

DNA: severe and abundant mtDNA mutation (T8993G) ijn eggs, embryos and offspring

Clinical expertise: PGD/embryo selection inappropriate (mutant mtDNAs too severe and too abundant)

Recommendation: Mitochondrial donation (also know as 3 parent IVF

Question 2

What is 3 parent IVF

Is a potential fertility treatment that allows the mu………… mtDNA of a patients egg or embryo to be replaced by healthy …………… from a d………… egg or embryo using nuclear genome transfer

The new egg/embryos is then fertilised by the partners sperm and in theory goes on to produce a disease ………… child

a child born by this technique will have the nuclear genetic material from …………. parents and the mtDNA from the ………….

Answer 2

What is 3 parent IVF

Is a potential fertility treatment that allows the mutated mtDNA of a patients egg or embryo to be replaced by healthy mtDNA from a donor egg or embryo using nuclear genome transfer

The new egg/embryos is then fertilised by the partners sperm and in theory goes on to produce a disease free chi8ld

a child born by this technique will have the nuclear genetic material from both parents and the mtDNA from the donor

Question 3

3- Parent IVF under scrutiny

• Clinical importance
• Permanent change to the g………-line
• Safety and et………concerns
• safety and ethical reviews
• Approved in 2015
• First license 2016

Answer 3

3- Parent IVF under scrutiny

• Clinical importance
• Permanent change to the germ-line
• Safety and ethical concerns
• safety and ethical reviews
• Approved in 2015
• First license 2016