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Food Interactions, Sirtuins, Genes, Homeostasis, and General Discussion
Published in Chuong Pham-Huy, Bruno Pham Huy, Food and Lifestyle in Health and Disease, 2022
Chuong Pham-Huy, Bruno Pham Huy
The second form of gene mutation is inherited mutation. Inherited mutations are those that may be passed on to offspring (descendants). Mutations can be inherited only when they affect the reproductive cells (sperm or egg) (106). A number of hereditary diseases are due to single gene inheritance such as Huntington’s disease, Marfan syndrome, sickle cell anemia, hemochromatosis, and so on (106). However, only about 5–10% of all cancer forms are due to inherited mutation (115–118).
Pre-conceptual and antenatal care
Published in Helen Baston, Midwifery, 2020
Women known to have, or be a carrier for, a hereditary disease are also advised to seek genetic counselling before they become pregnant so that they can consider the options available to them. It may be, for example, that a woman who has a parent with Huntington’s disease (HD) can access and consider pre-implantation genetic diagnosis (PIGD). This procedure would involve undergoing in vitro fertilisation (IVF) so that unaffected embryos could be selected and only those be replaced in the womb. Such difficult decisions require time to think through and discuss with family members.
A Brief History of Genetic Therapy: Gene Therapy, Antisense Technology, and Genomics
Published in Eric Wickstrom, Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors, 2020
From the earliest points in the development of classical genetics, physical traits conforming to the laws of genetic inheritance were observed in association with specific disease states. The inference was made that the principles of genetics may be linked in a physical manner to disease. For example, Garrod (1902) studied the incidence of the condition alkaptonuria, and later discussed this disease as an "inborn error of metabolism" (Garrod, 1909), thus linking a genetic inheritance pattern with the occurrence of a disease state. With this new method of disease classification, a list of genetically associated diseases began to grow. Indeed, through the extension of classical genetic studies and an expansion of associated technologies, 6,678 entries describing human genetic disorders were made by 1994 (McKusick, 1994). We refer to these diseases collectively as hereditary diseases. Indeed, hereditary diseases, such as cystic fibrosis and hemophilia, were among the first proposed targets for gene therapy.
The genetic background of Parkinson’s disease and novel therapeutic targets
Published in Expert Opinion on Therapeutic Targets, 2022
András Salamon, Dénes Zádori, László Szpisjak, Péter Klivényi, László Vécsei
The disease affects around 2–3% of the population ≥ 65 years of age [1]. The primary feature of PD is the degeneration and loss of dopaminergic neurons in the substantia nigra, which results in a striatal dopaminergic deficit [1]. The median age of onset of clinical symptoms (bradykinesia, rigidity and/or rest tremor) is around 60 years [2]. From a genetic point of view, PD is basically considered a sporadic disease, but 5–10% of patients have a positive family history. However, confirmed hereditary cases following Mendelian inheritance are rare [3]. Clinical differentiation of sporadic and hereditary forms of PD is very challenging and sometimes impossible [2]. Nevertheless, it can be stated that genetic variations underlying monogenic forms of PD can be identified more often in early-onset cases [3]. To date, the number of genetically confirmed genes and loci causing PD in monogenic form is thirteen (PARK1, −2, −6-10, −12-17). Furthermore, four, so far unconfirmed, PARK loci are known as well (PARK3, −5, −11, −18) [4]. In terms of inheritance, these genes show autosomal dominant (e.g. LRRK2, SNCA), recessive (e.g. PRKN, PINK1, DJ-1) and X-linked (e.g. RAB39B) patterns [5]. Furthermore, GBA mutations in heterozygous form are the most important risk factors for developing PD [6]. Table 1 illustrates the main characteristics of the most important hereditary disease forms (Table 1).
Start and End with Genetics: RCBTB1 and Beyond
Published in Current Eye Research, 2021
Junxing Yang, Wenmin Sun, Qingjiong Zhang
Great attention has been paid to FEVR since it was recognized as a common retinal disease-causing blindness in children and adolescents based on increasing evidence from genetic studies. Clinical gene testing has become routinely employed to diagnose hereditary diseases like FEVR in clinical practice because of the wide application of next-generation sequencing. Not only FEVR patients, but their family members frequently undergo next-generation sequencing to identify pathogenic variants for use during genetic counselling for carrier detection and even prenatal diagnosis during the first trimester of pregnancy. Characterization of FEVR-associated genes as well as FEVR-associated pathogenic variants is a critical step for their clinical application. The risks of mistaken identification of causative variants include not only false-positive diagnoses in carriers of those variants, but also potential false negative diagnoses in family members who lack those variants but carry other unidentified pathogenic mutations. For this reason, caution in categorizing genetic variants as causative is critical, especially when it might have clinical consequences. Open discussion and presentation of contradictory results is a key step in validating causative mutations and genes, not only for RCBTB1 but also for other genes reported to contribute to FEVR or other inherited eye diseases in recent years.
Bacterial imbalance and gut pathologies: Association and contribution of E. coli in inflammatory bowel disease
Published in Critical Reviews in Clinical Laboratory Sciences, 2019
Shahanavaj Khan, Ahamad Imran, Abdul Malik, Anis Ahmad Chaudhary, Abdur Rub, Arif Tasleem Jan, Jakeera Begum Syed, Christian Rolfo
Although gut microbiota is acquired at an early stage of life, it is further altered through factors that include genetic background, diet, and use of antibiotics [42]. Generally, CD is not considered to be a hereditary disease. Although several genetic predisposition factors have been described, the exact mechanisms underlying this disease remain unclear. Over 30 independent loci have been identified and shown to be associated with CD through genome-wide association studies (GWAS) [43,44]. Interestingly, various studies showed alteration in the caspase recruitment domain family (NOD2/CARD15) (CARD15, caspase recruitment domain-containing protein 15; NOD, nucleotide-binding oligomerization domain) in CD patients [45–47]. It has been proposed that NOD2/CARD15 is involved in regulation of the innate immune system, and any alteration in this gene may be an indication that the host is susceptible to bacterial infections. E. coli is considered one of the most remarkable bacteria in the human intestine [48]. Within innate immunity, possible associations between CD and polymorphisms in NOD2 (CARD15) and two autophagy-linked genes, ATG16L1 (autophagy-related 16 like) and IRGM (immunity-related GTPase family M protein), were explored [49,50]. Results suggested that errors in detection and elimination of intracellular bacteria were present in IBD patients [51,52].