Background: The most common cause of early-onset familial Alzheimer’s disease (EOfAD) is mutations in PRESENILIN 1 (PSEN1) allowing production mRNAs encoding full-length, but mutant, proteins. In contrast, a single known frameshift mutation PSEN1 causes acne inversa (fAI) without EOfAD. molecular consequences heterozygosity for these types, and how they completely different diseases, remains la...

Abstract Synonymous mutations in a protein coding gene lead to remarkably similar average “collateral” mutation effect size across alternative reading frames (1). Here we quantify the rarity of this feature among possible block structure codes as 0.77%. Then develop simple model evolutionary search with two types mutation. Across different step sizes and ratios types, fitness-maximizing region ...

familial hypercholesterolemia (fh) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in ldl receptor gene. the penetrance of fh is almost 100%, meaning that half of the offspring of affected parents born with disease. the patients are at risk of premature coronary heart disease (chd). there is no report about the molecular basis of fh in iran. identification of mutat...

background: apolipoprotein a2 (apoa2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (hdl-c). the study aim was to identify apoa2 gene variation in individuals within two extreme tails of hdl-c levels and its relationship with hdl-c level. methods: this cross-sectional survey was conducted on participants from tehran glucose and lipid study (tlgs) at research ins...