Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia

Singh, Ishwar; Nunia, Vandana; Sharma, Rakesh; Barupal, Jitendra; Govindaraj, Periyasamy; Jain, Rohit; Gupta, GN; Goyal, P. K.

doi:10.1016/j.leukres.2015.08.018

Cited by 5 publications

(4 citation statements)

References 28 publications

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“…The maintenance of telomere length is key since excessive shortening would lead to the appearance of symptoms associated with premature aging, and aberrant activity could favor the immortality of malignant cells. In recent years, there has been a number of publications on the search for mutations in the TER (RNA sequence of telomerase) sequence and in the TERT (telomerase reverse transcriptase) gene in various pathologies such as Zinsser–Cole–Engmann syndrome, also called Dyskeratosis Congenita [ 58 ]; aplastic anemia [ 59 ]; different types of cancer such as glioblastoma [ 60 ], melanoma [ 61 ], thyroid carcinoma [ 62 ], and breast cancer [ 63 ], among others; idiopathic pulmonary fibrosis [ 64 ]; and atherosclerosis [ 65 ] and more. Carroll et al (2013) [ 66 ] observed that elderly people (65–84 years), both men and women, with less social support had shorter telomeres.…”

Section: Introductionmentioning

confidence: 99%

Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

Delgado-Losada

Bouhaben

Arroyo-Pardo

et al. 2022

IJERPH

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Loneliness is considered a prognostic factor for poorer health status in the elderly. It is proposed to analyze the role of loneliness in health status in terms of various factors. A total of 1747 individuals from the pilot survey of the Aging in Spain Longitudinal Study (ELES-PS) were reviewed. ELES is a cross-sectional study for collecting health variables, food habits, socioeconomic data, and cognitive and functional capacities, which was carried out on a Spanish representative sample of noninstitutionalized persons of 50 years of age or older. Moreover, since telomere shortening is associated with cellular senescence, 35 telomere-related SNPs and cognitive impairments were analyzed. The results characterize the “solos” as males of 50–60 years, who were overweight and had lower levels of hemoglobin and neutrophils. There is also an association between five SNPs related to telomere length and BDNF. A group of people with loneliness and depression was identified with poorer health and cognitive status, poorer perception of their quality of life, poorer quality of sleep, and lower physical activity. Therefore, it follows that telomeres and BDNF play a role as intermediaries between loneliness and depression and their relationship with a worse state of health.

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Section: Introductionmentioning

confidence: 99%

Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

Delgado-Losada

Bouhaben

Arroyo-Pardo

et al. 2022

IJERPH

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“…This prospective descriptive study was performed between June 2018 and July 2019, after approval by the Ethics Committee of the King George’s Medical University, Lucknow (No.801/Ethics/R.Cell-18), on May 21, 2018. The International Agranulocytosis and Aplastic Anemia Study Group 10 criteria were used to diagnose a total of 80 cases of aplastic anemia (45 men and 35 women). The study was carried out at King George's Medical University, Lucknow, a tertiary care hospital in the northern Indian state of Uttar Pradesh, in the Departments of Pathology and Clinical Hematology.…”

Section: Methodsmentioning

confidence: 99%

Aplastic anemia severity and IL-6 and IL-8 blood levels

Bhargawa¹,

Singh²,

Yadav³

et al. 2022

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Introduction and Aims: Aplastic anemia is a rare, fatal bone marrow disorder that is presumed to be an autoimmune-mediated illness that actively destroys haematopoietic cells through a T helper type-1 cell response. Different cell types in the bone marrow and peripheral circulation produce chemokines, such as interleukin-6 (IL-6) and interleukin-8 (IL-8). The myelopoiesis that is profoundly impaired in aplastic anemia may be inhibited by these two, as critical and powerful inhibitors. Therefore, it is conceivable that their ongoing overproduction may contribute to aplastic anemia. We performed a quantitative enzyme-linked immunosorbent assay on the peripheral blood plasma to reveal the levels of IL-6 and IL-8 and their correlation to aplastic anaemia. Material and Methods: A total of 80 cases of aplastic anemia were included in this study, diagnosed according to the criteria laid down by the International Agranulocytosis and Aplastic Anemia study group. A total of 10 healthy individuals served as controls in this study. With the help of a commercial ELISA kit and the instructions from the kit's maker, the levels of IL-6 and IL-8 were measured in a quantitative way. Results: Mean serum IL-6 and IL-8 levels in cases were 283.28±220.27 and 122.56±97.79 pg/ml, respectively, as compared to 7.52±1.43 and 3.42±1.73 pg/ml levels in controls. Statistically, mean IL-6, as well as IL-8 levels, were significantly higher in aplastic anemia patients than in controls (p< 0.001). Levels of interleukins were also assessed in relation to the severity of the disease. Patients with very severe aplastic anaemia had significantly higher mean IL-6 and IL-8 levels (516.71±36.73 and 220.50±23.45 pg/ml, respectively), followed by severe aplastic anaemia (198.84±150.39 and 89.82±77.18 pg/ml, respectively) and non-severe aplastic anaemia (26.71±33.40 and 10.29±2.63 pg/ml, respectively) (p<0.001). Conclusions: Blood serum levels of IL-6 and IL-8 were increased in aplastic anemia and showed a correlation with the severity of the disease. Hence, IL-6 and IL-8 may play an important role in the immune-mediated pathophysiology of aplastic anemia and their increasing levels are giving alarming signals for timely implementation of the appropriate treatment regimen to stop further progression of the disease. Additional studies are required in order to further investigate the exact involvement and role of IL-6 and IL-8 in aplastic anemia.

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“…The incidence of aAA has been reported to be higher in India and Asian countries than the western countries; however, there is paucity of molecular data on aAA in the country [ 15 ] . In India, a few research groups have studied chromosomal breakage and telomere mutations and reported shorter telomere length in aAA patients [ 16 - 18 ] . There is still an urgent need to conduct more molecular research in aAA for better understating of the disease pathogenesis and profile of Indian patients.…”

Section: Introductionmentioning

confidence: 99%

Increased Expression of NOTCH-1 and T Helper Cell Transcription Factors in Patients with Acquired Aplastic Anemia

Sharma,

Namdeo,

Kumar

et al. 2023

IBJ

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Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia

Cited by 5 publications

References 28 publications

Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

Aplastic anemia severity and IL-6 and IL-8 blood levels

Increased Expression of NOTCH-1 and T Helper Cell Transcription Factors in Patients with Acquired Aplastic Anemia

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