Parental Gender Sex–Dependent1 Differences in CAG Repeat Length in Intergenerational Transmission Ofof2 Huntington‘s3 Disease

Dr. S. Q. Lapius, PhD4

Huntington‘s3 Diseasedisease5 (HD)6 is a neurodegenerative disease caused by a CAG repeat expansion on the Huntingtinhuntingtin7 gene (HTT)8 that, which9 codes for the Huntingtinhuntingtin8 protein (Htt). This repeat expansion produces an altered, disease disease-causing,2 antiapoptotic10 (e.g.ie,11 inhibitive of programmed cell death) form of the protein.

The study included 426 men and womenmale and female12 subjectsparticipants13 between nine and fifty three years oldaged 9 to 53 years,14 confirmed by genetic testing to have the parent to offspring15 transmitted expanded trinucleotide repeat that causes HD.

In paternal transmissions, larger mutant CAG repeat length corresponded with increaseda greater degree of16 CAG repeat expansion = 0.73; pP < 0.001)17 (Aziz, 2011).18

References
  1. Aziz, N. A., van Belzen, M. J., Coops, I. D., Belfroid, R. D., & Roos, R. A. (2011). Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington’s disease. European journal of medical genetics,Eur J Med Genet. 2011;54(4), e413e418. https://doi.org/doi:10.1016/j.ejmg.2011.04.00219

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Michael Moore

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Michael Moore


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Michael Moore


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References

1. Clayton et al. recommend use of the terms sex when reporting biological factors and gender when reporting gender identity or psychosocial or cultural factors (JAMA. 2016;316(18):1863–1864. doi:10.1001/jama.2016.16405). AMA §8.3.2.2, En Dash. The en dash shows relational distinction in a hyphenated or compound modifier, 1 element of which consists of 2 or more words. 2. AMA §2.1.6, Capitalization. Do not capitalize prepositions of 3 or fewer letters. 3. AMA §15.2, Nonpossesive Form. The nonpossessive form should be used for eponymous terms. 4. AMA §2.2.3, Academic Degrees. Multiple doctoral degrees are listed in the order preferred by the author. AMA §13.0-1, Abbreviations: Academic Degrees and Honors. Do not use periods with honorifics. Do not use both an honorific and an academic degree with a person’s name. 5. AMA §10.3.4, Eponyms and Words Derived From Proper Nouns. With eponyms, capitalize the proper name but not the common noun that follows it. 6. AMA §8.5.1.9, Brackets: Abbreviations. Abbreviations are enclosed in parentheses immediately after first mention of the term, which is spelled out in full. 7. AMA §10.3.4, Eponyms and Words Derived From Proper Nouns. With eponyms, derivative terms such as huntingtin are not capitalized. 8. AMA §14.6.2, Human Gene Nomenclature. Gene symbols should be italicized. 9. AMA §7.2.2.2, Indefinite Pronouns: That vs Which. Which introduces nonrestrictive clauses. Clauses beginning with which are preceded by commas. 10. AMA §8.3.1.6, When Not to Use Hyphens. The prefix anti- is not joined by a hyphen except when it precedes a proper noun, or an abbreviation. 11. AMA §11.1, Correct and Preferred Usage of Common Words and Phrases: eg, ie. eg: “for example”; ie: “that is.” No periods are required. AMA §8.2.1.4, Setting Off ie and eg. Use commas to set off ie and eg and the expanded equivalents, that is and for example. 12. AMA §11.7, Age and Sex Referents. The use of male and female as nouns is appropriate when referring to group of children and adults of both sexes. Some consider this usage dehumanizing; however, the most recent guidance of the JAMA Network and AMA Manual of Style (Frey T, Christiansen, S. Inclusive Language Guidance for Scientific Publishing. American Medical Writers Association webinar. April 18, 2024. Accessed March 29, 2024.) is to allow the use of male and female as nouns for ease and flexibility until more of a consensus is reached on how to use these terms. To avoid such usage, this example could simply read “426 participants.” 13. AMA §11.1, Correct and Preferred Usage of Common Words and Phrases: case, client, consumer, participant, patient, subject. Participant is preferred to subject. Some consider subject (as in study subject) to be impersonal, even derogatory, as if the person in the study were in a subservient role. 14. AMA §18.1, Use of Numerals. Numerals are used to express numbers in most circumstances. This phrase has also been edited for clarity. 15. AMA §8.3.1.1, Temporary Compounds. Hyphenate 2 or more adjectives used coordinately or as conflicting terms whether they precede the noun or follow as a predicate adjective. 16. The word increased implies a change over time, whereas greater implies a higher measurement at a single point in time (in this example, a greater degree of CAG expansion associated with paternal transmissions). 17. AMA §18.7.1, Decimals. No zero before the decimal point in numbers expressing the 3 values related to probability: P, α, and β. AMA §21.9.4, Italics. Italicize P value. 18. Subject to house or journal style. The AMA Manual of Style does not use in-text author name citations. AMA §3.5, Numbering. References should be numbered consecutively with arabic numerals in the order in which they are cited in the text. AMA §3.6 Citation. Each reference should be cited in the text, figures, tables, or boxes in consecutive numerical order by means of superscript arabic numerals. 19. AMA §3.11, References to Journal Articles. This reference was formatted in APA style and has been styled to AMA specification.