Power house Mito

Question 1

Treatment for mitochondrial disorders

Answer 1

no cure; management is symptom based and typically includes physical supplement

Question 2

Leber’s hereditary optic neuropathy
onset:
symptoms

Answer 2

most common mito disorder
Onset: teens- 20s
vision loss; reduced pentrance
boys more likely to be affected (50%) Females (10%)

Question 3

Mitochondrial Encephalomyopathy Lactic Acidosis, and stroke like episodes (MELAS)

Answer 3

Stroke like episodes = temporary muscle weakness on one side of the body, vision problems, seizures, headaches. Repeated episodes can damage the brain

Question 4

First signs MELAS and other symptoms

Answer 4

Seizures, headaches, vomiting, proximal limb weakness, excerise intolerance

other: dementia, myopathy, short stature, hearing loss

Question 5

Age of onset of MELAS

Answer 5

~2-10y ; late onset: 10-40y

Question 6

> 30% heteroplasmy for MELAS

<30% heteroplasmy for MELAS

Answer 6

typical MELAS stuff (Seizures, headaches, vomiting, proximal limb weakness, excerise intolerance)

<30% = diabetes

Question 7

Complex two of ETC associated with _ genes

Answer 7

nuclear

Question 8

Conditions associated with mtDNA variants

Answer 8

LHON, MELAS, MERRF, NARP

Question 9

mtDNA Deletion Syndromes (least to most severe)

Answer 9

PEO > Kearns-Sayre syndrome > Pearson syndrome

Question 10

inheritance of mtDNA deletion disorders

Answer 10

typically denovo

Question 11

Symptoms & onset of Kearns Sayer Syndrome

Answer 11

paralysis of the eye muscles, cardiac conduction defects, ataxia

onset by 20y

Question 12

Symptoms & onset Pearson Syndrome

Answer 12

bone marrow failure disorder. Function of the pancreas and other organs can also be affected

typically fatal in infancy

Question 13

Symptoms & onset PEO

Answer 13

ptosis, paralysis of the eye muscle, limb weakness