Notes in LE016 Non-Mendelian Inheritance Part 2

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Published	10/14/2024	{{c1::UBE3A-ATS (UBE3A antisense transcript)}} is a long non-coding RNA that silences the paternal copy of the UBE3A gene in neurons, preventing its e…
Published	10/14/2024	To treat Angelman syndrome, therapies aim to block {{c1:: UBE3A-ATS}} using an antisense oligo, allowing the paternal copy of UBE3A to be re-express…
Published	10/14/2024	UBE3A is imprinted paternally in the {{c1::neuronal}} cells and expressed from both chromosomes in {{c2::non-neuronal}} cells.
Published	10/14/2024	In angelman syndrome, if you lose maternal UBE3A , you will have {{c1::100%}} loss in the brain and {{c2::50 %}} loss in other tissues
Published	10/14/2024	In Duchenne muscular dystrophy (DMD), the mutation in the Dystrophin gene results in a {{c1::frameshift }} that leads to a complete loss of the dystr…
Published	10/14/2024	In Becker muscular dystrophy, mutations {{c1::do not}} change the reading frame of the protein
Published	10/14/2024	What are the steps for RNAi
Published	10/14/2024	What are the steps for miRNA
Published	10/14/2024	What are the three pathways for turning off transposons ?
Published	10/14/2024	What kind of diseases would you try to treat with gene silencing?
Published	10/14/2024	Which testing modality meets this criteria?
Published	10/14/2024	Which testing modality meets this criteria?
Published	10/14/2024	Which testing modality meets this criteria?
Published	10/14/2024	Which testing modality meets this criteria?
Published	10/14/2024	{{c1::Osyeogenesis Imperfecta}} is an autosomal disease affecting the bones that displays mosaicism
Published	10/14/2024	The observed risk of recurrence in a non-carrier parents of a child with an autosomal dominant or x-linked disorder is {{c1::3-4%}}
Published	10/14/2024	For all mtDNA mutations, clinical expression depends on Heteroplasmy , tissue distribution and {{c1::threshold effect}}
Published	10/14/2024	MERRF stands for {{c1::Myoclonic Epilepsy with Ragged Red Fibers}}
Published	10/14/2024	The 4 MERRF mutations code for tRNA’s for amino acids {{c1::Lysine}} and {{c2::Phenylalanine}}
Published	10/14/2024	Testing for MERRF is done through {{c1::sequencing}}
Published	10/14/2024	MELAS stands for {{c1::Mitochondrial Encephalomyopathy , Lactic Acidosis, and Stroke like episodes}}
Published	10/14/2024	{{c1::Complex II}} is the electron chain complex not affected by MELAS
Published	10/14/2024	{{c1::microsatellites}} are short sequences (2-5 bp ) of dna repeats
Published	10/14/2024	FMRP is important for {{c1::mRNA}} shuttling and translation control and binds to proteins important for {{c2::synaptic plasticity}}
Published	10/14/2024	Expansion of FMRP > 200 causes transcriptional silencing by {{c1::hypermethylation}} of the gene
Published	10/14/2024	In FMR1, {{c1::females}} (gender) increase number of repeats can during meiosis but in {{c2::males}} pass the same number of repeats
Published	10/14/2024	Fragile X and other TNRD’s are tested using {{c1::PCR}} and followed up with {{c2::southern blot}} if needed
Published	10/14/2024	In {{c1::Huntington}} Disease, males can transmit larger expansions of allele
Published	10/14/2024	The number of repeats is mitotically unstable in{{c1::Myotonic Dystrophy}}
Published	10/14/2024	{{c1::MCAD}} disease accounts for 5% of SIDS
Published	10/14/2024	VLCFAs are initially broken down in the {{c1::peroxisomes}} through a process called β-oxidation, where they are shortened.
Published	10/14/2024	What two TNRD’s have maternal anticipation?
Published	10/14/2024	{{c1::Myoclonic epilepsy with ragged red fibers (MERRF)}}Presentation: myoclonus, generalized epilepsy, ataxia, ragged red fibers on muscle biopsy, sy…
Published	10/14/2024	{{c1::Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)}}Presentation: childhood onset (2-10 years, death within 5-7 yea…
Published	10/14/2024	{{c1::Huntington disease}}Presentation: progressive motor, cognitive, and psychiatric neurological disorderMean onset 35-44 years. Fatal within 15-20 …
Published	10/14/2024	{{c1::Myotonic dystrophy}}Presentation: sustained involuntary muscle contraction; progressive diseaseGenetics: {{c1::Autosomal dominant}}CTG repe…
Published	10/14/2024	{{c1::Fragile X}} (1/3600 males, 1/4000-6000 females)Presentation: Premutation: tremor/ataxia (males); ovarian failure: FMR1-related primary ovar…
Published	10/14/2024	Individuals with mosaic mutations experience {{c1::milder}} phenotypes relative to those who carry mutations in every cell of the body
Published	10/14/2024	Mosaic mutations carries increased recurrence risks if there is mosaicism in the {{c1::gonads}}
Published	10/14/2024	{{c1::Osteogenesis Imperfecta}} is the recurrence of a rare autosomal dominant disorder in multiple children of an asymptomatic father
Published	10/14/2024	The recurrence risk for a parent with germline mosaicism depends on the {{c1::proportion of germline cells with the disease variant}}, which cannot be…
Published	10/14/2024	For all mtDNA mutations, clinical expression depends on {{c1::heteroplasmy (the relative abundance of mutant mtDNA)}}, {{c1::tissue distribution of mu…
Published	10/14/2024	Trinucleotide repeat disorders are caused by {{c1::unstable repeat expansions}}.
Published	10/14/2024	{{c1::Dynamic mutation}} indicates that trinucleotide repeats undergo expansion across multiple generations
Published	10/14/2024	{{c1::Anticipation}} posits that there is worsening severity and/or earlier onset with each succeeding generation of repeat expansion
Published	10/14/2024	Trinucleotide repeat disorders are primarily {{c1::neurological}} disorders
Published	10/14/2024	Pathogenesis for trinucleotide repeat disordersClass 1: diseases due to the expansion of {{c1::noncoding repeats}} that cause a {{…
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