» Articles » PMID: 30509934

The Genetic Basis of Disease

Overview
Journal Essays Biochem
Specialty Biochemistry
Date 2018 Dec 5
PMID 30509934
Citations 86
Authors
Affiliations
Soon will be listed here.
Abstract

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.

Citing Articles

Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.

Foden C, Durant K, Mellet J, Joubert F, van Rensburg J, Masemola K Int J Mol Sci. 2025; 26(5).

PMID: 40076698 PMC: 11900005. DOI: 10.3390/ijms26052075.


In silico development of HASDI-G2 as a novel agent for selective recognition of the DNA sequence.

Zaremba A, Zaremba P, Zahorodnia S Sci Rep. 2025; 15(1):8577.

PMID: 40075113 PMC: 11904238. DOI: 10.1038/s41598-025-89967-1.


Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis.

Cheng M, Lu D, Li K, Wang Y, Tong X, Qi X Nat Neurosci. 2025; .

PMID: 40069360 DOI: 10.1038/s41593-025-01896-4.


Awareness and Attitude of the General Population Towards Inherited Hemoglobinopathies in the Premarital Screening Program in the Northern Region of Saudi Arabia.

Hafiz M, Suhail N, Mohammed Z, Elzein H, Almasmoum H, Abass A Hematol Rep. 2025; 17(1).

PMID: 39997357 PMC: 11855037. DOI: 10.3390/hematolrep17010009.


Mitochondrial Dysfunction in Neurodegenerative Diseases.

Yang H Cells. 2025; 14(4).

PMID: 39996748 PMC: 11853439. DOI: 10.3390/cells14040276.


References
1.
Norbury G, Norbury C . DNA analysis: what and when to request?. Arch Dis Child. 2006; 91(4):357-60. PMC: 2065980. DOI: 10.1136/adc.2005.089219. View

2.
Feinberg A, Koldobskiy M, Gondor A . Epigenetic modulators, modifiers and mediators in cancer aetiology and progression. Nat Rev Genet. 2016; 17(5):284-99. PMC: 4888057. DOI: 10.1038/nrg.2016.13. View

3.
Pereira B, Chin S, Rueda O, Vollan H, Provenzano E, Bardwell H . The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. Nat Commun. 2016; 7:11479. PMC: 4866047. DOI: 10.1038/ncomms11479. View

4.
Delbridge A, Valente L, Strasser A . The role of the apoptotic machinery in tumor suppression. Cold Spring Harb Perspect Biol. 2012; 4(11). PMC: 3536334. DOI: 10.1101/cshperspect.a008789. View

5.
Martiniano S, Sagel S, Zemanick E . Cystic fibrosis: a model system for precision medicine. Curr Opin Pediatr. 2016; 28(3):312-7. PMC: 4946574. DOI: 10.1097/MOP.0000000000000351. View