scholarly journals Polymorphism of the genetic determinants of bone mineral metabolism in various groups of the Komi people

2021 ◽  
pp. 151-161
Author(s):  
A.I. Kozlov
Keyword(s):  
Mineral Metabolism ◽  
Food Composition ◽  
Lactase Persistence ◽  
Ecological Niches ◽  
Genetic Determinants ◽  
Vdr Gene ◽  
Traditional Diet ◽  
Genotype Frequencies ◽  
The Difference ◽  
Autochthonous Population

The subject of the study is autochthonous population of the Northern and Middle Cis-Urals: Komi-Permyaks, Komi (Zyryans), and Komi-Izhems. The aim of the study is to compare the population frequencies of the LCT (rs4988235) and VDR (FokI rs2228570 and BsmI rs1544410) genes and to consider the contribution of environ-mental and cultural factors to the formation of differences in the genetic determinants of bone tissue metabolism. In total, 181 Komi-Permyak, 223 Komi, and 200 Komi-Izhem subjects were tested clinically and genetically. The evaluation consisted of the determination of polymorphic loci of VDR and LCT genes variants and assessment of clinical and laboratory lactase activity. The information on traditional diet and food composition was obtained from ethnographic materials. The study group of Komi-Izhems differs by a high proportion of C*LCT carriers (0.85) from the other two groups (p < 0.05). The prevalence of hypolactasia, i.e., limited lactase production, is also higher (p < 0.05) in Komi-Izhems (0.64) than in Komi-Permyaks (0.47) and Zyryans (0.41). The T*BsmI allele frequency is higher in Komi-Izems (0.493) in hetero- CT* (0.463) and homozygote TT* (0.261) genotypes, as compared to Zyryans (p < 0.05, where the frequencies are 0.377, 0.329 and 0.212, respectively). The values of BsmI allele and genotype frequencies in Komi-Permyaks are intermediate and do not differ significantly from those in Komi-Izhems and Zyryans. The concentration of T*FokI is highest in Komi-Permyaks (0.528). They are followed by Zyryans (the difference is insignificant, p > 0.05). Komi-Izhems have the smallest proportion of T*FokI allele carriers (0.400) and significantly differ from Komi-Permyaks (p = 0.01). The genotype distributions in FokI locus of VDR in the groups of Komi-Permyaks and Zyryans do not differ, but both show higher CT*FokI genotype frequencies than Komi-Izhems (0.549 and 0.569 against 0.288; p < 0.001). Poor livestock production and a lack of milk in the traditional subsistence economy of the Komi-Permyaks weakened the selection in favor of T*LCT allele and lactase persistence. The low intake of calcium with milk was compensated by an increase in the sensitivity of the target organs to calciferol, the regulator of mineral metabolism, by maintaining the high frequency of carriers of T*BsmI and T*FokI alleles of VDR gene in the population. The more productive dairy farming of Zyryans stimulated selection in favor of lactase persistence. The possibility of continuous consumption of calcium from milk eased the selection pressure on VDR loci. The regulation by T*FokI produced a physiologically sufficient effect and T*BsmI carriership remained low. The diet of the Komi-Izhems, who were accustomed to high-latitude regions, comprised low-lactose dairy products. The population preserved a high carriage of C*LCT and the phenotype of hypolactasia. Moderately intensive selection for vitamin D receptor sensitivity showed up in the increase of VDR T*BsmI frequency only. The high D-vitamin status of the Izhem people was leveraged by the traditional diet with a considerable intake of ergocalciferol-rich venison and fish. The Komi-Permyaks, Komi (Zyryans) and Komi-Izhems occupied different ecological niches and the groups found different ways to adapt to the unfavorable bone-homeorhesis conditions. The flexible responses to the pressure of the environmental factors were imple-mented by the selection of variants of LCT, VDR FokI and VDR BsmI genes, which are located in different chro-mosomes and determine different stages of mineral metabolism. We contend that modern interpopulation differences in distribution of the genotypes and alleles are the manifestations of different strategies of ecological adaptation of anthropologically related groups.

scholarly journals The Associated Ion between the VDR Gene Polymorphisms and Susceptibility to Hepatocellular Carcinoma and the Clinicopathological Features in Subjects Infected with HBV

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Xing Yao ◽  
Huazong Zeng ◽  
Guolei Zhang ◽  
Weimin Zhou ◽  
Qiang Yan ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Smoking Status ◽  
Clinicopathological Features ◽  
Hbv Infection ◽  
Advanced Tumor Stage ◽  
Vdr Gene ◽  
Genotype Frequencies ◽  
Advanced Tumor ◽  
Vdr Gene Polymorphisms ◽  
Chronic Hepatitis B Virus

Aim. To evaluate the possible association between the vitamin D receptor (VDR), single-nucleotide polymorphisms (SNPs), and hepatocellular carcinoma (HCC) in patients with chronic hepatitis B virus (HBV) infection.Method. 968 chronic HBV infection patients were enrolled, of which 436 patients were diagnosed HCC patients, and 532 were non-HCC patients. The clinicopathological characteristics of HCC were evaluated. The genotypes of VDR gene at FokI, BsmI, ApaI, and TaqI were determined.Results. The genotype frequencies of VDR FokI C>T polymorphism were significantly different between HCC and non-HCC groups. HCC patients had a higher prevalence of FokI TT genotype than non-HCC subjects. With FokI CC as reference, the TT carriage had a significantly higher risk for development of HCC after adjustments with age, sex, HBV infection time,α-fetoprotein, smoking status, and alcohol intake. In addition, we also found that the TT genotype carriage of FokI polymorphisms were associated with advanced tumor stage, presence of cirrhosis, and lymph node metastasis. The SNP at BsmI, ApaI, and TaqI did not show positive association with the risk and clinicopathological features of HCC.Conclusion. The FokI C>T polymorphisms may be used as a molecular marker to predict the risk and to evaluate the disease severity of HCC in those infected with HBV.

scholarly journals P0754FGF23 AND URINARY PHOSPHATE EXCRETION FOR ESTIMATION OF NEPHRON NUMBER: DIFFERENCES BETWEEN CHRONIC KIDNEY FAILURE AND KIDNEY TRANSPLANTATION

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Marzia Pasquali ◽  
Natalia De Martini ◽  
Lida Tartaglione ◽  
Silverio Rotondi ◽  
Marta Catalfamo ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Transplantation ◽  
Kidney Disease ◽  
Mineral Metabolism ◽  
Chronic Kidney Failure ◽  
Serum Levels ◽  
Nephron Number ◽  
Phosphate Excretion ◽  
Single Nephron ◽  
The Difference

Abstract Background and Aims Assuming that FGF23 levels correlate with phosphate excretion per nephron, nephron number can be estimated by measuring FGF23 levels and urinary phosphate excretion (FEP). Kuro-O proposed that the ratio of FEP to serum FGF23 levels should correlate with nephron number and is defined as the Nephron Index (NI). The aim of the study is calculating NI as nephron number estimation in patients affected by various degree of chronic kidney disease, both transplanted and not. Method In 147 CRF patients kidney function, mineral metabolism biomarkers and NI were evaluated. Nephron Index was calculated following Kuro-o’s equation (kuro-o 2019): NI=FEP·Ps·eGFRFGF23 Observed patients were divided into two groups: patients with CKD (noTX) and transplanted ones (TX). Results noTX group was made up of 67 patients (40 males and 27 females) affected by CKD stages from G1 to G5. TX group was composed by 80 patient (49 males and 31 females) with various degree of CKD (G1T-G4T) showing mean graft age of 83,2 ± 54,8 months (range: 10,3-268,0). The two groups differed for age (mean age 59 ± 15,6 years in CKD, 55± 10,3years in TX). Mean eGFR did not differ between TX and noTX but NI was higher in TX since FEP was higher despite lower FGF23 levels in TX. The difference in FGF23 levels does not appear to depend on Klotho and PTH whose serum levels were no different between Tx and noTx. (Table1). As far as correlations are concerned, NI correlated with eGFR, FGF23, PTH and 1,25D in both group, while NI correlated with FEP only in the TX group. It's interesting that no correlation existed between FGF23 and sP, FEP, eGFR and sKlotho in TX differently from noTX (Table2). Discussion. NI could not be properly defined as nephron number estimation in TX pts. However it may represent higher function of residual nephrons, since higher FEP did not correlate to FGF23 and could be determined by compensatory hyperfiltration (increased single nephron GFR) in transplanted patients. Conclusion After kidney transplantation, high NI value could have a functional meaning rather than represent residual number of nephrons.

scholarly journals Metagenomics: aid to combat antimicrobial resistance in diarrhea

Gut Pathogens ◽  
2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Rituparna De
Keyword(s):  
Antimicrobial Resistance ◽  
Antimicrobial Agents ◽  
Genetic Recombination ◽  
Molecular Taxonomy ◽  
Ecological Niches ◽  
Next Generation ◽  
Genetic Determinants ◽  
Antimicrobial Resistance Genes ◽  
And Function ◽  
Generation Sequencing

Abstract Antimicrobial resistance (AMR) has emerged as an obstacle in the supple administration of antimicrobial agents to critical diarrheal patients. Most diarrheal pathogens have developed resistance against the major classes of antibiotics commonly used for assuaging diarrheal symptoms. Antimicrobial resistance develops when pathogens acquire antimicrobial resistance genes (ARGs) through genetic recombination from commensals and pathogens. These are the constituents of the complex microbiota in all ecological niches. The recombination events may occur in the environment or in the gut. Containment of AMR can be achieved through a complete understanding of the complex and diverse structure and function of the microbiota. Its taxonomic entities serve as focal points for the dissemination of antimicrobial resistance genetic determinants. Molecular methods complemented with culture-based diagnostics have been historically implemented to document these natural events. However, the advent of next-generation sequencing has revolutionized the field of molecular epidemiology. It has revolutionized the method of addressing relevant problems like diagnosis and surveillance of infectious diseases and the issue of antimicrobial resistance. Metagenomics is one such next-generation technique that has proved to be a monumental advancement in the area of molecular taxonomy. Current understanding of structure, function and dysbiosis of microbiota associated with antimicrobial resistance was realized due to its conception. This review describes the major milestones achieved due to the advent and implementation of this new technique in the context of antimicrobial resistance. These achievements span a wide panorama from the discovery of novel microorganisms to invention of translational value.

Seasonal, Grazing Site and Fish Size Effects on Patterns of Algal Consumption by the Herbivorous Fish, Siganus rivulatus, at Mikhmoret (Mediterranean, Israel)

1993 ◽  
Vol 27 (7-8) ◽  
pp. 413-419 ◽  
Author(s):  
B. Lundberg ◽  
Y. Lipkin
Keyword(s):  
Late Summer ◽  
Food Composition ◽  
Mediterranean Coast ◽  
Medium Size ◽  
Limited Area ◽  
Small Fish ◽  
Large Fish ◽  
Food Species ◽  
The Difference ◽  
Siganus Rivulatus

Siqanus rivulatus, a successful herbivorous immigrant fish from the Red Sea, consumes along the Israeli east Mediterranean coast a wide variety of algae. Only four of them composed about a half of the bulk of its food, and only twelve, about 80% of it. Seasonal changes in quantitative representation of different algae in the food followed several patterns. Most algae were taken throughout the year. Proportions in the food of some algae fluctuated only slightly during the year, proportions of others were very great during short periods and much smaller during the rest of the year. Polvsiphonia is an example for the former, Ulva and Spatoglossum, for the latter. Among the latter, Ulva dominates the food contents during the end of winter and spring; Spatoglossum, during the late summer. As shown previously, s. rivulatus prefers certain algae as food. Nevertheless, food composition in fish captured at inshore sites differed from that of fish captured offshore. This reflects, to a certain extent, the difference in vegetation between these sites, and the fact that the fish tend to graze in a rather limited area at a time. Small and large fish take different algal food species. Unexpectedly, small fish clearly preferred some large and robust algae, consuming them in much greater proportions than bigger fish. Also unexpectedly, medium size fish showed preferences and avoidances of their own in regard to the consumption of certain algae, and not merely occupied an intermediate position between small and large fish.

scholarly journals Food Composition Impacts the Accuracy of Wearable Devices When Estimating Energy Intake from Energy-Dense Food

Nutrients ◽  
2019 ◽  
Vol 11 (5) ◽  
pp. 1170
Author(s):  
Giulia Lorenzoni ◽  
Daniele Bottigliengo ◽  
Danila Azzolina ◽  
Dario Gregori
Keyword(s):  
Food Intake ◽  
Energy Intake ◽  
Caloric Intake ◽  
Wearable Devices ◽  
Food Composition ◽  
Dominant Hand ◽  
Measurement Device ◽  
The Difference ◽  
The University ◽  
Energy Dense Food

The present study aimed to assess the feasibility and reliability of an a3utomatic food intake measurement device in estimating energy intake from energy-dense foods. Eighteen volunteers aged 20–36 years were recruited from the University of Padova. The device used in the present study was the Bite Counter (Bite Technologies, Pendleton, USA). The rationale of the device is that the wrist movements occurring in the act of bringing food to the mouth present unique patterns that are recognized and recorded by the Bite Counter. Subjects were asked to wear the Bite Counter on the wrist of the dominant hand, to turn the device on before the first bite and to turn it off once he or she finished his or her meal. The accuracy of caloric intake was significantly different among the methods used. In addition, the device’s accuracy in estimating energy intake varied according to the type and amount of macronutrients present, and the difference was independent of the number of bites recorded. Further research is needed to overcome the current limitations of wearable devices in estimating caloric intake, which is not independent of the food being eaten.

scholarly journals Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Lazar Velicki ◽  
Djordje G. Jakovljevic ◽  
Andrej Preveden ◽  
Miodrag Golubovic ◽  
Marija Bjelobrk ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Clinical Phenotype ◽  
Genetic Disorder ◽  
Positive Family History ◽  
Mitral Annulus ◽  
Genetic Determinants ◽  
Myosin Binding Protein ◽  
Number Of Patients ◽  
History Of ◽  
The Difference

Abstract Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations. Methods As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. Results The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e′ ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079). Conclusions Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.

Study on Intravenous Zoledronic Acid Treatment in Thalassemia-Induced Osteoporosis.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3764-3764
Author(s):  
Zaher Otrock ◽  
Sami Azar ◽  
Adlette Inati ◽  
Suzane Koussa ◽  
Rami Mahfouz ◽  
...  
Keyword(s):  
Vitamin D ◽  
Zoledronic Acid ◽  
Joint Pain ◽  
Beta Thalassemia ◽  
Performance Score ◽  
Treatment Needs ◽  
Vdr Gene ◽  
Significant Difference ◽  
The Difference ◽  
And Performance

Abstract Background: Beta-thalassemia is an inherited disorder of hemoglobin synthesis with many associated morbidities. Osteoporosis is an important cause of morbidity in these patients. Bisphosphonates are potent inhibitors of osteoclast activity and have been recently used for the treatment of osteoporosis in beta-thalassemia. Several studies have indicated that the vitamin D receptor (VDR) gene has a role in the regulation of bone mineral density (BMD) and bone metabolism, but the results are very controversial. The aim of this study is to assess the effectiveness and safety of zoledronic acid in Lebanese thalassemics with osteoporosis. Methods: We studied 23 patients with beta-thalassaemia major (14 patients) and intermedia (9 patients). Thirteen patients were male and 10 were female, with a mean (+/− standard deviation) age of 25 +/− 9 years. All patients had severe osteoporosis and were receiving calcium and vitamin D supplements prior to and during the study. Zoledronic acid was given i.v. at a dose of 4 mg every 3 months over 12 months. The effects were monitored by assessing pain score, analgesic score and performance score. The BMD of the hip and lumbar spine, osteocalcin, bony alkaline phosphatase and pyrrolidine crosslinks were also measured. To gain more insight into the genetic basis of osteoporosis in thalassemia and to correlate this with the response to zoledronic acid, we analysed the polymorphism of the VDR gene in three polymorphic sites (Bsm I, Taq I and Apa I) using restriction enzymes digestion. Results: We have given two doses of zoledronic acid uptil now. The most common adverse event was joint pain in 12 patients (52.2%) lasting for 1–3 days and responding to analgesics. Four patients had perioral numbness and five had fever. These adverse events were markedly reduced after the 2nd dose; only two patients had joint pain. No patients discontinued the study until now. The pain scores, analgesic score and performance score were all improved compared to baseline values. The difference in pain index score was significant (p=0.004), and the reduction in the number of painful sites was slightly significant (p=0.097). There was significant difference in the baseline z score of the spine between transfusion dependent patients (15 patients) and transfusion non-dependent patients (8 patients) (p = 0.042). The distributions of VDR alleles in Bsm I polymorphism were 30.4% for BB, 52.3% for Bb, and 17.3% for bb; in the Apa I polymorphism 17.4% for AA, 47.8% for Aa, and 34.8% for aa; in Taq I polymorphism 30.4% for TT, 52.3% for Tt, and 17.3% for tt. We found no significant differences in baseline BMD between the three groups of Bsm I polymorphism at all sites. Apa I was not associated with significant differences in BMD. The BMD of the Ward’s triangle was higher in patients with the Tt-genotype compared with individuals with the tt-genotype and the difference was almost significant (p=0.089, ANOVA). Conclusions: In Lebanese thalassemics with osteoporosis zoledronic acid (a dose of 4 mg) is well tolerated and the clinical response is quite impressive. However, the response to treatment needs to be assessed by follow-up BMDs and blood bone markers.

CHARACTERIZATION OF BACTERIAL ADHESION AND BIOFILM FORMATION ABILITY OF LIVESTOCK-ASSOCIATED METHICILLIN-RESISTANTSTAPHYLOCOCCUS AUREUSISOLATED FROM SWINE AND SLAUGHTERHOUSE WASTEWATERS

2014 ◽  
Vol 40 (02) ◽  
pp. 101-107
Author(s):  
Min-Tao Wan ◽  
Chin-Cheng Chou
Keyword(s):  
Bacterial Adhesion ◽  
Biofilm Formation ◽  
Microtiter Plate ◽  
Ecological Niches ◽  
Microtiter Plate Assay ◽  
Environmental Group ◽  
Biofilm Production ◽  
The Difference ◽  
Wastewater Samples

Livestock-associated methicillin-resistant Staphylococcus aureus (LA-MRSA) ST9 has emerged as a potential zoonotic pathogen for humans and animals. Bacterial adhesion factors and biofilms mediate host colonization and infection of MRSA. This study investigated the dynamics of microbial surface components recognizing adhesive matrix molecules (MSCRAMMs), biofilm formation gene (intercellular adhesion [ica]), and biofilm expression in MRSA from the nasal samples of asymptomatic pigs (the nasal group, n = 147) and swine slaughterhouse wastewater samples (the environmental group, n = 86). Biofilm formation was quantified by microtiter plate assay. The most prevalent MSCRAMM profile was clfA-clfB-spa-eno-ebps-fib and more than 70% of the LA-MRSA ST9 isolates harbored the biofilm formation gene. Environmental MRSA harbored lower levels of the ica locus and MSCRAMMs (clfA and fib) than did the nasal group, suggesting possible gene loss. Biofilm production in the nasal group was higher than in the environmental group, indicating the difference in biofilm formation in MRSA isolates from different ecological niches. The higher prevalence of MSCRAMMs, biofilm formation gene, and biofilm production in LA-MRSA ST9 may enhance the persistence and infectivity of MRSA in the swine population and present a threat to the health of livestock as well as farm workers.

scholarly journals Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy 

2020 ◽  
Author(s):  
Lazar Velicki ◽  
Djordje G Jakovljevic ◽  
Andrej Preveden ◽  
Miodrag Golubovic ◽  
Marija Bjelobrk ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Clinical Phenotype ◽  
Genetic Disorder ◽  
Positive Family History ◽  
Mitral Annulus ◽  
Genetic Determinants ◽  
Myosin Binding Protein ◽  
Number Of Patients ◽  
History Of ◽  
The Difference

Abstract Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.5±18.3 vs. 81.3±16.4 µmol/l; p=0.487) and blood urea nitrogen (10.2±15.6 vs. 6.9±3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients caring MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p=0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e’ ratio between the two groups was also noted (MYBPC3 8.8±3.3, MYH7 13.9±6.9, p=0.079).Conclusions: Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.

scholarly journals Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy

2020 ◽  
Author(s):  
Lazar Velicki ◽  
Djordje G Jakovljevic ◽  
Andrej Preveden ◽  
Miodrag Golubovic ◽  
Marija Bjelobrk ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Clinical Phenotype ◽  
Genetic Disorder ◽  
Positive Family History ◽  
Mitral Annulus ◽  
Genetic Determinants ◽  
Myosin Binding Protein ◽  
Number Of Patients ◽  
History Of ◽  
The Difference

Abstract Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.5±18.3 vs. 81.3±16.4 µmol/l; p=0.487) and blood urea nitrogen (10.2±15.6 vs. 6.9±3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients caring MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p=0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e’ ratio between the two groups was also noted (MYBPC3 8.8±3.3, MYH7 13.9±6.9, p=0.079).Conclusions: Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.

Sign in / Sign up

Export Citation Format

Share Document