Mitochondrial diseases Flashcards
How many genes, proteins, forms of rna and forms of dna does mitochondrial dna have?
37 genes
13 proteins
2 forms of rna
22 forms of dna
Mitochondrial dna is involved in ——+ production through oxidative phosphorylation. As a knsequence, defects in it can lead to —— affecting all tissues with great metabolic requirements.
ATP
Lactic acidosis
What tissues are most affected with disease of mitochondria?
Tissues with heavy Metabolic requirements such as
Brain, neural tissue and muscle tissue.
Degeneration of the retinal ganglios and their axons. Leading to acute or subacute loss of central vision. Dx?
Leber’s hereditary optic neuropathy
Leber hereditary optic neuropathy mutations?
3 mutations.
ND1, ND4 or ND6
nD1, Nd4 and ND6 are genes from the ——- of the oxidative phosphorylation chain.
Complex 1
Female with acute visual loss of one eye. Severe optic atrophy and permanent visual acuity disturbances. Dx?
Lebers Hereditary optic neuropathy
Treatment for Lebe’s Hereditary optic neuropathy
IDE-benone which acts as a transporter in the ETC chain and increases production of ATP.
MOA of IDE-benone
Acts as transporter in the ETc and increases production of ATP
Associated with LEU-UUR gene
DAD - diabetes mellitus and deafness Syndrome
And
MIDD - maternally inherited diabetes and deafness
A person with diabetes mellitus Type 1, sensorineural deafness, renal dysfunction, GI problems, cardiomyopathy. Gene?
LEU-UUR gene
DAD y MIDD Syndrome
Mutation in SURF-1
Leigh syndrome
Loss of mental and physical capabilities in a one year old baby. Failure t thrive (dysphasia, diarrhea, vomiting), hypotonia, dystonia. Peripheral neuropathies, visual disturbances like nystagmus, ophathalmoparesis, optic atrophy.
Leigh Syndrome,
Gene SURF-1
Aka subacute necrotizing encephalomyelopathy
Ragged red fibers (diseased mitochondrial accumulation in the subsarcolemmal region of the muscle fiber), hearing loss, lactic acidosis, short stature, exercise intolerance.
Progressibe myoclonic epilepsy.
MERRF Syndrome
