Progeroid Cockayne Syndrome DOI Creative Commons

Anastasiya L. Kungurtseva,

A. V. Vitebskaya

Вопросы современной педиатрии, Год журнала: 2024, Номер 23(3), С. 124 - 130

Опубликована: Июль 10, 2024

Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The autosomal recessive, and it caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), XPG (ERCC5) genes. Its prevalence 1 case per 2.5 million people. clinical signs include nervous, cardiovascular musculoskeletal systems impairments, severe growth retardation, body weight deficiency. average life expectancy these patients varies 5 to 30 years depends on type severity. There no pathogenetic treatment. This article presents results latest research diagnosis management.

Язык: Английский

A Review of Telomere Attrition in Cancer and Aging: Current Molecular Insights and Future Therapeutic Approaches DOI Open Access
Mina Iskandar, M. Barbéro,

Mohammed Tariq Jaber

и другие.

Cancers, Год журнала: 2025, Номер 17(2), С. 257 - 257

Опубликована: Янв. 14, 2025

As cells divide, telomeres shorten through a phenomenon known as telomere attrition, which leads to unavoidable senescence of cells. Unprotected DNA exponentially increases the odds mutations, can evolve into premature aging disorders and tumorigenesis. There has been growing academic clinical interest in exploring this duality developing optimal therapeutic strategies combat attrition cellular immortality cancer. The purpose review is provide an updated overview biology tactics address We used Rayyan platform PubMed database examined ClinicalTrial.gov registry gain insight trials their results. Cancer activate telomerase or utilize alternative lengthening escape shortening, leading near immortality. Contrarily, normal experience telomeric erosion, contributing disorders, such Werner syndrome Hutchinson-Gilford Progeria, (2) aging-related diseases, neurodegenerative cardiovascular diseases. literature presents several promising approaches potentially balance maintenance shortening This highlights gaps knowledge points potential these interventions preclinical studies inform future research cancer aging.

Язык: Английский

Процитировано

0

The Genetic and Epigenetic Arms of Human Ageing and Longevity DOI Creative Commons
Elena Ciaglia, Francesco Montella, Valentina Lopardo

и другие.

Biology, Год журнала: 2025, Номер 14(1), С. 92 - 92

Опубликована: Янв. 18, 2025

This proposed review aims to shed light on the major genetic and epigenetic contributions ageing process longevity of individuals. In this context, we summarize state knowledge most important variants, their interactions with environment, in achieving a healthy lifespan. We also explore contribution lifestyle influence non-heritable environmental factors (i.e., epigenetics). Accordingly, discuss role inflammageing as one targets overcome morbidity mortality older people for maintenance ageing. more integrated view will display not only underlying mechanisms at play but invites reader rethink both our attitudes toward age.

Язык: Английский

Процитировано

0

Resetting the aging clock through epigenetic reprogramming: Insights from natural products DOI
Xin Liu, Jing Feng,

Mingli Guo

и другие.

Pharmacology & Therapeutics, Год журнала: 2025, Номер unknown, С. 108850 - 108850

Опубликована: Апрель 1, 2025

Язык: Английский

Процитировано

0

Common features between aging and cancer: a narrative review DOI
Muhammad Abubakar,

Yasir Hameed,

Muhammad Kiani

и другие.

Aging advances., Год журнала: 2024, Номер 1(2), С. 118 - 134

Опубликована: Дек. 1, 2024

Aging is a complex biological process characterized by gradual deterioration in physiological activities, contributing to an elevated risk of different age-associated malignancies, including cancer. The current review paper aims elucidate the association between hallmarks aging and parallel development Various cellular molecular mechanisms underlying such as senescence, genomic instability, telomere shortening play significant role accumulation genetic mutations disruption activities. It has also discussed immune system’s aging, indicating how age-linked dysfunction compromises body’s capacity recognize eradicate pre-tumorous cells, thus promoting cancer advancement. This examines affects tumor microenvironment, where age-related alterations stromal extracellular matrix factors lead conditions that promote growth proliferation. Furthermore, it discusses concept “accelerated aging” survivors, highlighting negative effects its therapy intensify process, resulting greater physical cognitive decline. explores prospect new therapies target aging-related processes ameliorate outcomes. Overall, underscores need for ongoing interdisciplinary research understand relationship cancer, ultimately aiming develop more effective prevention treatment approaches.

Язык: Английский

Процитировано

3

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes DOI Open Access
Lidia Larizza, Elisa Adele Colombo

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(17), С. 9387 - 9387

Опубликована: Авг. 29, 2024

This review starts off with the first germline homozygous variants of Nucleoporin 98 gene (NUP98) in siblings whose clinical presentation recalls Rothmund–Thomson (RTS) and Werner (WS) syndromes. The progeroid phenotype caused by a associated haematological malignancies neurodegenerative disorders primed search for interplay between caretakers involved genome instability syndromes Nuclear Pore Complex (NPC) components. In context basic information on NPC architecture functions, we discuss studies interdependence gatekeepers WS Hereditary Fibrosing Poikiloderma (POIKTMP), both entering differential diagnosis RTS. WS, WRN/WRNIP complex interacts nucleoporins Y-complex NDC1 altering architecture. POIKTMP, mutated FAM111B, recruited Y-complex’s SEC13 NUP96, several Nups safeguarding structure. linkage defective to highlights attempt activate repair hub at nuclear periphery restore DNA damage. two separate POIKTMP are drawn close interaction their damage sensors shared hallmark short fragile telomeres disclosing major role telomere maintenance.

Язык: Английский

Процитировано

1

Progeroid Cockayne Syndrome DOI Creative Commons

Anastasiya L. Kungurtseva,

A. V. Vitebskaya

Вопросы современной педиатрии, Год журнала: 2024, Номер 23(3), С. 124 - 130

Опубликована: Июль 10, 2024

Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The autosomal recessive, and it caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), XPG (ERCC5) genes. Its prevalence 1 case per 2.5 million people. clinical signs include nervous, cardiovascular musculoskeletal systems impairments, severe growth retardation, body weight deficiency. average life expectancy these patients varies 5 to 30 years depends on type severity. There no pathogenetic treatment. This article presents results latest research diagnosis management.

Язык: Английский

Процитировано

0