In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe.
The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships.
The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve.
The rate at which mitochondrial DNA mutates is known as the mitochondrial molecular clock. It is an area of ongoing research with one study reporting one mutation per 8000 years.[2]
https://en.wikipedia.org/wiki/Human_mitochondrial_DNA_haplogroup
Degenerative disease is the result of a continuous process based on degenerative cell changes, affecting tissues or organs, which will increasingly deteriorate over time.[1]
In neurodegenerative diseases, cells of the central nervous system stop working or die via neurodegeneration. An example of this is Alzheimer's disease.[2] The other two common groups of degenerative diseases are those that affect circulatory system (e.g. coronary artery disease) and neoplasticdiseases (e.g. cancers).[1]
Many degenerative diseases exist and some are related to aging. Normal bodily wear or lifestyle choices (such as exercise or eating habits) may worsen degenerative diseases, but this depends on the disease.[1] Sometimes the main or partial cause behind such diseases is genetic.[3] Thus some are clearly hereditary like Huntington's disease.[4] Sometimes the cause is viruses, poisons or other chemicals. The cause may also be unknown.[3]
Some degenerative diseases can be cured, but not always. It might still be possible to alleviate the symptoms.[1]
Examples[edit]
- Alzheimer's disease (AD)[5]
- Amyotrophic lateral sclerosis[5] (ALS, Lou Gehrig's disease)
- Cancers[1]
- Charcot–Marie–Tooth disease (CMT)[6]
- Chronic traumatic encephalopathy[7]
- Cystic fibrosis[8]
- Some cytochrome c oxidase deficiencies (often the cause of degenerative Leigh syndrome)[9]
- Ehlers–Danlos syndrome[10]
- Fibrodysplasia ossificans progressiva
- Friedreich's ataxia[11]
- Frontotemporal dementia (FTD)[12]
- Some cardiovascular diseases (e.g. atherosclerotic ones like coronary artery disease, aortic stenosis etc.)[13]
- Huntington's disease[4]
- Infantile neuroaxonal dystrophy[14]
- Keratoconus (KC)[15]
- Keratoglobus[16]
- Leukodystrophies[17]
- Macular degeneration (AMD)[18]
- Marfan's syndrome (MFS)[19]
- Some mitochondrial myopathies[20]
- Mitochondrial DNA depletion syndrome[21]
- Multiple sclerosis (MS)[22]
- Multiple system atrophy[23]
- Muscular dystrophies (MD)[24]
- Neuronal ceroid lipofuscinosis[25]
- Niemann–Pick diseases[26]
- Osteoarthritis[27]
- Osteoporosis[27]
- Parkinson's disease[5]
- Pulmonary arterial hypertension[28]
- All prion diseases (Creutzfeldt-Jakob disease, fatal familial insomniaetc.)[5]
- Progressive supranuclear palsy[29]
- Retinitis pigmentosa (RP)[30]
- Rheumatoid arthritis[31]
- Sandhoff Disease[32]
- Spinal muscular atrophy (SMA, motor neuron disease)[33]
- Subacute sclerosing panencephalitis[34]
- Substance Use Disorder[35]
- Tay–Sachs disease[32]
- Vascular dementia (might not itself be neurodegenerative, but often appears alongside other forms of degenerative dementia)[36]
See also[edit]
References[edit]
- ^ ab c d e "What is Degenerative Disease". docdoc.com.sg. Archivedfrom the original on 2018-09-17. Retrieved 2018-09-17.
- ^ "neurodegenerative disorder". National Cancer Institute. 2011-02-02. Archived from the original on 2018-04-23. Retrieved 2018-09-17.
- ^ ab "Neurodegenerative Diseases". Archived from the original on 2018-07-28. Retrieved 2018-09-17.
- ^ ab Nopoulos, PC (2016). "Huntington disease: a single-gene degenerative disorder of the striatum". Dialogues in Clinical Neuroscience. 18 (1): 91–98. doi:10.31887/DCNS.2016.18.1/pnopoulos. ISSN 1294-8322. PMC 4826775. PMID 27069383.
- ^ ab c d Soto, C; Satani, N (2011). "The intricate mechanisms of neurodegeneration in prion diseases". Trends in Molecular Medicine. 17 (1): 14–24. doi:10.1016/j.molmed.2010.09.001. ISSN 1471-4914. PMC 3056171. PMID 20889378.
- ^ Patzkó, Á; Shy, ME (2011). "Update on Charcot-Marie-Tooth Disease". Current Neurology and Neuroscience Reports. 11 (1): 78–88. doi:10.1007/s11910-010-0158-7. ISSN 1528-4042. PMC 3685483. PMID 21080241.
- ^ Maroon, JC; Winkelman, R; Bost, J; Amos, A; Mathyssek, C; Miele, V (2015-02-11). "Chronic Traumatic Encephalopathy in Contact Sports: A Systematic Review of All Reported Pathological Cases". PLOS ONE. 10 (2): e0117338. Bibcode:2015PLoSO..1017338M. doi:10.1371/journal.pone.0117338. ISSN 1932-6203. PMC 4324991. PMID 25671598.
- ^ Fraser-Pitt, D; O’Neil, D (2015). "Cystic fibrosis – a multiorgan protein misfolding disease". Future Science OA. 1 (2): FSO57. doi:10.4155/fso.15.57. ISSN 2056-5623. PMC 5137970. PMID 28031875.
- ^ "Cytochrome c oxidase deficiency". rarediseases.info.nih.gov. Archived from the original on 2017-10-22. Retrieved 2018-09-17.
- ^ "Ehlers-Danlos syndromes". rarediseases.info.nih.gov. Archivedfrom the original on 2018-06-16. Retrieved 2018-09-17.
- ^ Delatycki, M; Williamson, R; Forrest, S (2000). "Friedreich ataxia: an overview". Journal of Medical Genetics. 37 (1): 1–8. doi:10.1136/jmg.37.1.1. ISSN 0022-2593. PMC 1734457. PMID 10633128.
- ^ Warren, JD; Rohrer, JD; Rossor, MN (2013-08-06). "Frontotemporal dementia". The BMJ. 347: f4827. doi:10.1136/bmj.f4827. ISSN 0959-8138. PMC 3735339. PMID 23920254.
- ^ Barik, R (2016). "Degenerative aortic valve disease and coronary artery disease are either side of a coin". Indian Heart Journal. 68 (3): 432. doi:10.1016/j.ihj.2015.09.010. ISSN 0019-4832. PMC 4911461. PMID 27316510.
- ^ Li, H; Zou, Y; Bao, X; Wang, H; Wang, J; Jin, H; Che, Y; Tang, X (2016). "Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review". Experimental and Therapeutic Medicine. 12 (5): 3387–3389. doi:10.3892/etm.2016.3761. ISSN 1792-0981. PMC 5103811. PMID 27882168.
- ^ Davidson, AE; Hayes, S; Hardcastle, AJ; Tuft, SJ (2014). "The pathogenesis of keratoconus". Eye. 28 (2): 189–195. doi:10.1038/eye.2013.278. ISSN 0950-222X. PMC 3930280. PMID 24357835.
- ^ Wallang, BS; Das, S (2013). "Keratoglobus". Eye. 27 (9): 1004–1012. doi:10.1038/eye.2013.130. ISSN 0950-222X. PMC 3772364. PMID 23807384.
- ^ van der Knaap, MS; Bugiani, M (2017). "Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms". Acta Neuropathologica. 134 (3): 351–382. doi:10.1007/s00401-017-1739-1. ISSN 0001-6322. PMC 5563342. PMID 28638987.
- ^ Anand, A; Sharma, K; Chen, W; Sharma, NK (2014). "Using Current Data to Define New Approach in Age Related Macular Degeneration: Need to Accelerate Translational Research". Current Genomics. 15 (4): 266–277. doi:10.2174/1389202915666140516204512. ISSN 1389-2029. PMC 4133950. PMID 25132797.
- ^ Gao, L; Luo, F; Hui, R; Zhou, X (2010). "Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders". Ageing Research Reviews. 9 (3): 363–368. doi:10.1016/j.arr.2009.09.001. ISSN 1568-1637. PMID 19772952. S2CID 205666350.
- ^ "MELAS Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2017-02-20. Retrieved 2018-09-17.
- ^ El-Hattab, AW; Scaglia, F (2013). "Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options". Neurotherapeutics. 10 (2): 186–198. doi:10.1007/s13311-013-0177-6. ISSN 1933-7213. PMC 3625391. PMID 23385875.
- ^ Fitzner, D; Simons, M (2010). "Chronic Progressive Multiple Sclerosis – Pathogenesis of Neurodegeneration and Therapeutic Strategies". Current Neuropharmacology. 8 (3): 305–315. doi:10.2174/157015910792246218. ISSN 1570-159X. PMC 3001222. PMID 21358979.
- ^ Ubhi, K; Low, P; Masliah, E (2011). "Multiple System Atrophy: A Clinical and Neuropathological Perspective". Trends in Neurosciences. 34 (11): 581–590. doi:10.1016/j.tins.2011.08.003. ISSN 0166-2236. PMC 3200496. PMID 21962754.
- ^ Shin, J; Tajrishi, MM; Ogura, Y; Kumar, A (2013). "Wasting Mechanisms in Muscular Dystrophy". The International Journal of Biochemistry & Cell Biology. 45 (10): 2266–2279. doi:10.1016/j.biocel.2013.05.001. ISSN 1357-2725. PMC 3759654. PMID 23669245.
- ^ Mole, SE; Williams, Ruth E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Neuronal Ceroid-Lipofuscinoses", GeneReviews®, University of Washington, Seattle, PMID 20301601, retrieved 2018-09-17
- ^ Evans, WRH; Hendriksz, CJ (2017). "Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment". BJPsych Bulletin. 41 (2): 109–114. doi:10.1192/pb.bp.116.054072. ISSN 2056-4694. PMC 5376728. PMID 28400970.
- ^ ab Shen, Y; Zhang, Y; Shen, L (2013-04-15). "Postmenopausal women with osteoporosis and osteoarthritis show different microstructural characteristics of trabecular bone in proximal tibia using high-resolution magnetic resonance imaging at 3 tesla". BMC Musculoskeletal Disorders. 14: 136. doi:10.1186/1471-2474-14-136. ISSN 1471-2474. PMC 3659090. PMID 23587336.
- ^ Bazan, IS; Fares, WH (2015-08-17). "Pulmonary hypertension: diagnostic and therapeutic challenges". Therapeutics and Clinical Risk Management. 11: 1221–1233. doi:10.2147/TCRM.S74881. ISSN 1176-6336. PMC 4544628. PMID 26316767.
- ^ Owolabi, LF (2013). "Progressive Supranuclear Palsy Misdiagnosed as Parkinson's Disease: A Case Report and Review of Literature". Annals of Medical and Health Sciences Research. 3 (Suppl1): S44–S47. doi:10.4103/2141-9248.121221. ISSN 2141-9248. PMC 3853608. PMID 24349849.
- ^ Hamel, C (2006-10-11). "Retinitis pigmentosa". Orphanet Journal of Rare Diseases. 1: 40. doi:10.1186/1750-1172-1-40. ISSN 1750-1172. PMC 1621055. PMID 17032466.
- ^ Abdel-Ahad, P; El Chammai, M; Fneich, A; Issa, R; Kabbara, W; Richa, S (2016). "Les manifestations psychiatriques dans la polyarthrite rhumatoïde". L'Encéphale. 42 (2): 172–176. doi:10.1016/j.encep.2015.12.008. ISSN 0013-7006. PMID 26850214.
- ^ ab Walia, JP; Altaleb, N; Bello, A; Kruck, C; LaFave, MC; Varshney, GK; Burgess, SM; Chowdhury, B; Hurlbut, D (2015). "Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates". Molecular Therapy. 23 (3): 414–422. doi:10.1038/mt.2014.240. ISSN 1525-0016. PMC 4351464. PMID 25515709.
- ^ Simone, C; Ramirez, A; Bucchia, M; Rinchetti, P; Rideout, H; Papadimitriou, D; Re, DB; Corti, S (2016). "Is Spinal Muscular Atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?". Cellular and Molecular Life Sciences. 73 (5): 1003–1020. doi:10.1007/s00018-015-2106-9. ISSN 1420-682X. PMC 4756905. PMID 26681261.
- ^ Jafri, SK; Kumar, R; Ibrahim, SH (2018-06-26). "Subacute sclerosing panencephalitis – current perspectives". Pediatric Health, Medicine and Therapeutics. 9: 67–71. doi:10.2147/PHMT.S126293. ISSN 1179-9927. PMC 6027681. PMID 29985487.
- ^ https://www.hazeldenbettyford.org/education/bcr/addiction-research/brain-disease-model-ru-316#:~:text=Patients%3A%20Addiction%20is%20a%20degenerative,be%20reversed%20through%20sustained%20abstinence.
- ^ Korczyn, AD; Vakhapova, V; Grinberg, LT (2012-11-15). "Vascular dementia". Journal of the Neurological Sciences. 322 (1–2): 2–10. doi:10.1016/j.jns.2012.03.027. ISSN 0022-510X. PMC 3435447. PMID 22575403.
https://en.wikipedia.org/wiki/Degenerative_disease
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