RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Journal Title: International Journal of Pharmacy and Pharmaceutical Sciences - Year 2017, Vol 9, Issue 5
Abstract
Progeria also known Hutchinson–Gilford progeria syndrome (HGPS), is an extremely rare genetic disorder. The prevalence of HGPS is 1 in 4-8 million newborns. Progeria causes premature, rapid aging shortly after birth present within the first year of life. Recently, de novo point mutations in the Lmna gene at position 1824 of the coding sequence have been found in persons with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope and play a role in protein processing. The most common HGPS mutation is located at codon 608 (G608G). This mutation responsible for creating a cryptic splice site within exon 11, which deletes a proteolytic cleavage site within the expressed mutant lamin A. In Progeria, gene mutation results in the deletion of a Zmpste24/FACE1 splice site in prelamin A, preventing end terminal cleavage. The result of this point mutation can be observed by the main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis. The common symptoms of HGPS is a loss of eyebrows and eyelashes which can observed in early childhood and due to receding hairline and blading can also observed. Generally, this patient has facial character include microganthia (small jaw), craniofacial disproportion, prominent eyes, scalp veins and alopecia (loss of hair), restricted joint mobility and severe premature atherosclerosis. Laboratory findings are unremarkable, with the exception of an increased urinary excretion of hyaluronic acid. There is presently no effective therapy is available for Hutchinson-Gilford progeria syndrome (HGPS) but, it is essential to monitor carefully cardiovascular and cerebrovascular disease So, Treatment usually includes low dose aspirin which helps prevent the atherothrombotic events, stroke and heart attacks by hindering platelet aggregation
Authors and Affiliations
Bhawana Sharma, Priyanka Sharma, S. C. Joshi
Keywords
Related Articles
- EP ID EP575625
- DOI 10.22159/ijpps.2017v9i5.16282
- Views 95
- Downloads 0
STABILITY INDICATING RP-HPLC-PDA METHOD FOR DETERMINATION OF ABIRATERONE ACETATE AND CHARACTERIZATION OF ITS BASE CATALYZED DEGRADATION PRODUCT BY LC-MS
Objective: The present work describes stability indicating (SI) RP-HPLC-PDA method for determination of abiraterone acetate (ABA) and characterization of its base catalyzed degradation product by LC-MS.Methods: The separ...
DEVELOPMENT AND VALIDATION OF CHROMATOGRAPHIC METHOD FOR THE SIMULTANEOUS ESTIMATION OF OLMESARTAN MEDOXOMIL, AMLODIPINE BESYLATE, CILNIDIPINE IN COMBINATION TABLET DOSAGE FORM
Objective: To develop and validate a simple, sensitive and isocratic reverse phase high performance liquid chromatography (RP-HPLC) method for the simultaneous determination of olmesartan medoxomil (OLM), amlodipine besy...
STRUCTURE BASED DRUG DESIGNING, SCORING, AND SYNTHESIS OF SOME SUBSTITUTED SULPHONYLUREAS/GUANIDINE -BASED DERIVATIVES AS HYPOGLYCEMIC AGENTS
Objective: The present work deals with the designing, scoring, synthesis and, characterization of 1-(4-(2-(4-Substitutedphenylamino)-2-oxoethyl)phenylsulfonyl)-3-(4-substitutedbenzoyl)urea (5A-5B),1-(4-(2-(4-substitutedp...
EVALUATION OF PRESCRIBING INDICATORS FOR PEADIATRIC OUTPATIENTS UNDER SIX YEARS OLD IN DISTRICT HOSPITALS OF CAN THO CITY IN THE PERIOD OF 2015-2016
Objective: Examining and comparing the primary and supplementary prescribing indicators in pediatric outpatients under six years old. Methods: We performed a comparative cross-sectional study, over nine months, from Sep...
BIOLOGICAL IMPORTANCE OF QUINAZOLIN-4-ONE SCAFFOLD AND ITS DERIVATIVES–A BRIEF UPDATE
Heterocyclic compounds form the basis of many pharmaceutical, agrochemical and veterinary products. Among a wide variety of nitrogen heterocyclic moieties that have been explored for developing pharmaceutically useful mo...