Molecular Genetics of Keratoconus: Clinical Implications

Occurrence of keratoconus is pan-ethnic with reported prevalence ranging widely from 1:400 to about 1:8000, higher in Asian than Western populations. Its genetics is complex with undefined pattern of inheritance. Familial traits are also known. More than 50 gene loci and 200 variants are associated with keratoconus, some through association studies with quantitative traits of cornea features including curvature and central thickness. Environmental, behavioral, and epigenetic factors are also involved in the etiology, likely interactively with genetic susceptibility. Regardless of sex and age of disease onset, clinical courses and responses to treatment vary. Keratoconus is a major cause of cornea transplantation and is potentially blinding. Currently collagen cross-linking provides effective treatment although responses from some patients can be unpredictable with complications. Early diagnosis is vital to obtain good treatment outcome, but in many patients early signs and symptoms are not obvious. While there are potential biomarkers, reliable pre-symptomatic detection and prediction of treatment response may require multitude of gene variants, cornea properties, and external risk factors

Pharmacokinetics and Disposition of Green Tea Catechins

Green tea reportedly possesses many health beneficial effects as a beverage. Its usage has even been elevated to therapeutic level for treatment of diseases, including cancer, after increasing the catechin constituents in green tea extract or through purified catechins compounds. However, the therapeutic effectiveness of green tea extract or catechin formulae on different diseases is still questionable and inconsistent in reported studies. One reason is the low and variable bioavailability of catechins or unknown constituents in green tea extract. The plasma levels of total catechins are usually at submicromolar level which is well below the effective dose in many in vitro studies. Besides their variable chemical structures that cause heterogeneity of absorption, green tea catechins are subject to extensive metabolism by phase II process and catabolism by colonic microbes that result in complicated pharmacokinetics. It is essential to understand the factors affecting the pharmacokinetics and metabolic profiles in plasma and tissues based on animal and human studies before green tea catechins can be applied for therapeutic use