PHPT in western India is symptomatic disorder with skeletal and renal manifestations at a much younger age. Clinical profile of PHPT in children is similar to that of adults.

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Telomerase serves a critical role in stem cell function and tissue homeostasis. This role depends on its ability to synthesize telomere repeats in a manner dependent on the reverse transcriptase (RT) function of its protein component telomerase RT (TERT), as well as on a novel pathway whose mechanism is poorly understood. Here, we use a TERT mutant lacking RT function (TERT ci ) to study the mechanism of TERT action in mammalian skin, an ideal tissue for studying progenitor cell biology. We show that TERT ci retains the full activities of wild-type TERT in enhancing keratinocyte proliferation in skin and in activating resting hair follicle stem cells, which triggers initiation of a new hair follicle growth phase and promotes hair synthesis. To understand the nature of this RT-independent function for TERT, we studied the genome-wide transcriptional response to acute changes in TERT levels in mouse skin. We find that TERT facilitates activation of progenitor cells in the skin and hair follicle by triggering a rapid change in gene expression that significantly overlaps the program controlling natural hair follicle cycling in wild-type mice. Statistical comparisons to other microarray gene sets using pattern-matching algorithms revealed that the TERT transcriptional response strongly resembles those mediated by Myc and Wnt, two proteins intimately associated with stem cell function and cancer. These data show that TERT controls tissue progenitor cells via transcriptional regulation of a developmental program converging on the Myc and Wnt pathways.

The study group comprised of 12 occupationally exposed "radiotherapeutic and diagnostic workers", working since last 12 years on an average (service duration 3 to 20 years), with 12 age and sex-matched controls not exposed to any kind of radiation and belonging to same socioeconomic status as the radiation workers. Cytogenetic end points studied were CAs (Chromosomal aberrations), SCE (Sister chromatid exchange) and MN (Micronuclei). Hematological parameters were also studied. In addition, co-mutagenic/synergistic in vitro effects of known mutagen Mitomycin-C (MMC) on lymphocytes of these workers were evaluated. Results revealed a significant increase in dicentric (P < 0.05) as well as MN (P< 0.01) among radiation exposed workers when compared to controls. By contrast, no change in SCE frequencies and hematological parameters were observed. After in vitro MMC treatment CA (mainly dicentric and ring) increased significantly in lymphocytes of radiation exposed workers. Based on these observations, a preliminary indication of the study could be that long term low level radiation exposure may probably damage the genetic constitution of an individual.

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