genetics original Flashcards
What gene mutation causes central core myopathy?
Central core disease is caused by mutations of the ryanodine receptor (RYR1, on chromosome 19).
What gene mutations cause multiminicore myopathy?
Multiminicore disease may be caused by recessive mutations in selenoprotein N1 (SEPN1), and skeletal muscle ryanodine receptor (RYR1).Selenoprotein contains cysteine were sulfur (16) is replaced by selenium (34), which occurs in glutathione and other enzymes.
What genetic mutations cause centronuclear myopathy?
Centronuclear myopathies may be due to mutations of dynamin 2 (DNM2, chromosome 19), or myelotubularin protein (MTM1, X-chromosome, PI3 phosphatase).
What genetic mutations cause congenital fiber type disproportion myopathy?
Congenital Fiber Type Disproportion is genetically heterogeneous and maybe due to mutations in alpha-actin (ACTA1, chromosome 1), slow skeletal alpha-tropomyosin 3 (TPM3, chromosome 1), selenoprotein N1 (SEPN1), or skeletal muscle ryanodine receptor (RYR1).
What additional mutations are known to cause nonspecific congenital myopathy?
There are rare additional myopathies due to mutations in MEGF10 (multiple epidermal growth factor like domains 10), EMARDD (myopathy, areflexia, respiratory distress, and dysphagia, early onset), and SMARD1 (spinal muscular atrophy, distal, autosomal recessive, 1).MEGF10 regulates muscle satellite cell generation.
How many types of collagen are there?
There are over 30 types of collagen formed from various combinations of collagen genes. There are more than 20 genes with over 1000 different mutations so far known to cause phenotypic changes.
What is nebulin?
Nebulin is an actin binding protein (600 – 900 kDa) that may act as a ruler for actin length. It also inhibits ATPase activity in a calcium-calmodulin sensitive manner. It’s mutated form results in nemaline myopathy.
What types of myopathy develop from mutations in ACTA1 gene (actin α-isoform).
Mutations alter the structure of muscle with 3 types of myopathy, type 3 nemaline myopathy, congenital myopathy with excess of thin micro filaments, and fiber type disproportion.ACTA1 is predominant in skeletal muscle.
What is SMARD1 (spinal muscular atrophy, distal, autosomal recessive, 1 due to?
Spinal muscular atrophy with respiratory distress type I (SMARD 1) is due to motor neuron atrophy from a recessive mutation in the IGHMBP2 (Immunoglobulin helicace mu-binding protein 2) gene.
What inherited complement abnormalities occur in systemic lupus erythematosus?
Complement abnormalities-C1q, C4A and B, C2, and mutated TREX1 (repair exonuclease that degrades DNA) produce the highest hazard ratios.
How many genes associated with SLE by GWAS studies?
GWAS studies identify 45 relevant gene loci by pathway-immunity and inflammation: HLA-DR, PTPN22, STAT4, IRF5, BLK, OX40L, FCGR2A, BABK1, IRAK1, TNFAIP3, C2, C4, C1q, PXKcell adherence: ITGAMDNA repair: TREX1tissue response to injury: KLK1, KLK3these account for only 18% of overall susceptibility to SLE.
How many genes participate in metabolic pathways leading to type 1 diabetes, rheumatoid arthritis, and Crohn’s disease?
There are at least 149 genes in diabetes type I, 189 in rheumatoid arthritis, and 277 in Crohn’s disease that participate in functional pathways that predict disease susceptibility.Use genotypic data from the welcome trust case control Consortium on 14,000 Caucasian UK patients and 3000 controls with 7 diseases; Crohn’s, rheumatoid arthritis, type I diabetes, hypertension, type II diabetes, bipolar disorder. Looked at 1415 genes, 20,309 snips within 10 KB of the genes.
What are some of the genes that effect purine metabolism in rheumatoid arthritis?
gucy1a2 quanylate cyclase 1 soluble, alpha-2 activated by NO, catalyze GTP to cGTP papss2 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase. In chondroitin sulfate pathwayPDE10A phosphodiesterase 10A, cAMP and cGMP hydrolytic activityPDE9A cGMP-specific PDE activityADSS adenylosuccinate synthetase, AMP synthesis pathway
What genetic defect is associated with childhood polyarteritis nodosa.
CECR1 gene (Cat Eye syndrome Chromosome Region, candidate 1, on 22q11), one of multiple mutations that decrease adenosine deaminase enzymatic function. Eye coloboma, various atresias, rarely lethal.
What genes are associated with scleroderma?
Susceptibility loci for systemic sclerosis include; -DNASE1L3 (deoxyribonuclease 1-LIKE 3) at 3p14-SCHIP1-IL12A (Schwannomin-interacting protein, interleukin 12) at 3q25-ATG5 (autophagy 5) at 6q21-Suggestive associations with TREH-DDX6 (trehalase (disaccharide), endonuclease) at 11q23Susceptibility Loci Shared with SLE Include;-KIAA0319L (dyslexia susceptibility locus) at 1p34-PXK (PX domain containing serine/threonine kinase). PX codes for Na+/K+ ion pump activities.-JAZF1 (endometrial and prostate tumor associated)-DNASE1L3.
