Shared Flashcard Set

Details

Mitochondrial Inheritance Disorders
Genetics
23
Medical
Graduate
10/27/2010

Additional Medical Flashcards

 


 

Cards

Term
Leber Hereditary Optic
Neuropathy (LHON)mutation/alteration
Definition
Point mutation in protein
coding genes (90% of cases in
NAD1, 4 or 6) leading to
decrease in ATP production
Term
Leber Hereditary Optic
Neuropathy (LHON) gene locus
Definition
ND1, ND4 and ND6
various other
mt DNAgenes
Term
Leber Hereditary Optic
Neuropathy (LHON) gene product
Definition
NADH dehydrogenase 1,
4 and 6 subunits
(complex I components)
Term
Leber Hereditary Optic
Neuropathy (LHON) inheritance
Definition
Mitochondrial inheritance
(maternal)
Heteroplasmy is rare and
disease expession is pretty
uniform
Term
Leber Hereditary Optic
Neuropathy (LHON) clinical features
Definition
Progressive bilateral, painless visual
failure that develops in young adult.
Males are more likely affected for
unknown reasons. Selective
degeneration of the retinal ganglion cell
layer and optic nerve. Other features
may include cardiac arrhythmias,
postural tremor and movement
disorders.
Term
Myoclonic Epilepsy
Ragged‐Red Fibers (MERRF) gene/locus
Definition
tRNA (lys) gene
ND5
Term
Myoclonic Epilepsy
Ragged‐Red Fibers
(MERRF) gene product
Definition
transfert RNA for Lysine
NADH dehydrogenase 5
subunit
Term
Myoclonic Epilepsy
Ragged‐Red Fibers
(MERRF) mutation/alteration
Definition
Point mutation in tRNA lys 90%
of cases (causing premature
termination of translation process for
complex I and cytochrome oxidase)
Point mutation in NADH
dehydrogenase 5 subunit
Term
Myoclonic Epilepsy
Ragged‐Red Fibers
(MERRF) inheritance
Definition
Mitochondrial inheritance
(maternal) Heteroplasmy
common leading to
variable expression of the
disease
Term
Myoclonic Epilepsy
Ragged‐Red Fibers
(MERRF) clinical presentation
Definition
Myoclonus (muscle twitching), seizures,
cerebellar ataxia, dementia, abnormal
mitochondria in skeletal muscle that
impart an irregular shape and bloddy red
staining of the muscle cells. Some
mitochondria contain parking lot
inclusions
Term
Mitochondrial Myopathy,
Encephalopathy, Lactic
Acidosis and Stroke like
Episodes syndrome
(MELAS) gene locus
Definition
tRNA (leu) gene
various ND genes
Term
Mitochondrial Myopathy,
Encephalopathy, Lactic
Acidosis and Stroke like
Episodes syndrome
(MELAS) gene product
Definition
transfert RNA for leucine
various NADH
dehydrogenase subunits
Term
Mitochondrial Myopathy,
Encephalopathy, Lactic
Acidosis and Stroke like
Episodes syndrome
(MELAS) mutation/alteration
Definition
Point mutation in tRNAleu 80%
of cases(causing premature
termination of translation process for
cytochrome oxidase i.e complexIV)
Point mutation in NADH
dehydrogenase 5 subunit
Term
Mitochondrial Myopathy,
Encephalopathy, Lactic
Acidosis and Stroke like
Episodes syndrome
(MELAS) inheritance
Definition
Mitochondrial inheritance
(maternal) Heteroplasmy
common leading to
variable expression of the
disease
Term
Mitochondrial Myopathy,
Encephalopathy, Lactic
Acidosis and Stroke like
Episodes syndrome
(MELAS) clinical presentation
Definition
Mitochondrial myopathy evidenced by
lactic acidosis, encephalopathy with
seizures/dementia, stroke like episodes
Term
Kearns‐Sayre syndrome gene locus
Definition
Partial deletions and
duplications of mtDNA
Term
Kearns‐Sayre syndrome mutation/alteration
Definition
Partial deletions and
duplications of mtDNA
resulting in decrease activity
of complexes I‐IV
Term
Kearns‐Sayre syndrome inheritance
Definition
Mitochondrial inheritance
(maternal) Heteroplasmy
common leading to
variable expression of the
disease
Term
Kearns‐Sayre syndrome clinical presentation
Definition
Chronic progessive external
ophthalmoplegia (paralysis of the muscle
controlling the eyes),pigmentary
degeneration of the retina, hearing loss,
vestibular dysfunction, cerebellar ataxia
and onset around 20 years of age
Term
Leigh syndrome inheritance
Definition
Mendelian inheritance
(AR) for mutations in
nuclear genes
Mitochondrial
inheritance (maternal)
Heteroplasmy common
for mutation in mtDNA
Term
Leigh syndrome mutation/alteration
Definition
point mutation in protein
genes and RNA genes
Term
Leigh syndrome gene locus
Definition
various mutations in
nuclear DNA and mtDNA
(including ND genes,
mitochondrial tRNA genes
and ATP synthetase 6
(ATP6) gene).
Term
Leigh syndrome clinical presentation
Definition
Disease of early childhood, lactic
acidosis, arrest of psychomotor
development, feeding problems,
seizures, extraoccular palsies and
weakness with hypotonia. Death within
1 to 2 years
Supporting users have an ad free experience!