News
Correlation between Genetics and Weight Loss
Doctors can now use a patient’s genetics to medically guide patients toward weight loss and avoiding diseases such as diabetes, hypertension and heart disease. "
Testosterone Improves the Quality of Life
Conclusions from the American Heart Association: "Low endogenous bioavailable testosterone levels have been shown to be associated with higher rates of all cause and cardiovascular-related mortality. Patients suffering from coronary artery disease, congestive heart failure, type II diabetes, and obesity have all been shown to have lower levels of
endogenous testosterone compared with those in healthy controls. In addition, the severity of coronary artery disease and congestive heart failure correlated with the degree of testosterone deficiency."
Dr. Melamed uses genetic testing to identify a patient’s risks coronary artery disease, congestive heart failure, type II diabetes, and obesity. This is correlated with the patient’s testosterone and other related hormones, including estrogen and estradiol. Together Dr. Melamed can guide the patient towards a successful treatment that will avoid future disease.
REF: http://jaha.ahajournals.org/content/2/6/e000272.full
New Insight Correlating Genetics with Health and Wellness
Doctors can now use a patient’s genetics to medically guide the patients for a more fulfilling life that is better equipped to avoid disease. Patients can expect increased energy, reduced excess body weight, and an improvement in body and mind."
A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer
PARK2, a gene associated with Parkinson disease, is a tumor suppressor in human malignancies. A germline mutation in PARK2 (rs34424986), is present in a family with eight cases of lung cancer. Mutation was detected in three additional families affected by lung cancer. These data implicate this PARK2 germline mutation as a genetic susceptibility factor for lung cancer.
REF: http://dx.doi.org/10.1016/j.ajhg.2014.12.016
Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1
Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest rs62355902 associated with significantly increased risks of both estrogen-receptor-positive and estrogen-receptor-negative tumors. Functional analysis of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
REF: http://dx.doi.org/10.1016/j.ajhg.2014.11.009
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of males with early-onset parkinsonism and intellectual disability identified a defect resulting in the complete loss of RAB39B associated with a missense mutation (c.503C>A [p.Thr168Lys]). Subsequent post mortem studies demonstrated that loss of RAB39B resulted in pathologically confirmed Parkinson disease. There was extensive dopaminergic neuron loss in the substantia nigra and widespread classic Lewy body pathology. The loss of RAB39B results in dysregulation of α-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders.
REF: http://dx.doi.org/10.1016/j.ajhg.2014.10.015
Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma
Due to high melanoma immunogenicity, germline genetic variants in immune pathways have been studied for association with melanoma prognosis. We discovered novel associations of IL10 with melanoma survival at 1q32.1, suggesting this locus should be considered as a novel melanoma prognostic biomarker with potential for aiding melanoma patient management. Our findings also provide further support for an alternative role of IL10 in stimulation of anti-tumour immune response.
REF: http://jmg.bmj.com/content/52/4/231.abstract
